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Sample records for manifestations cardiac disease

  1. Cardiac manifestations in systemic sclerosis

    Institute of Scientific and Technical Information of China (English)

    Sevdalina; Lambova

    2014-01-01

    Primary cardiac involvement, which develops as a direct consequence of systemic sclerosis(SSc), may manifest as myocardial damage, fibrosis of the conduction system, pericardial and, less frequently, as valvular disease. In addition, cardiac complications in SSc may develop as a secondary phenomenon due to pulmonary arterial hypertension and kidney pathology. The prevalence of primary cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations, the presence of subclinical periods, the type of diagnostic tools applied, and the diversity of patient populations. When clinically manifested, cardiac involvement is thought to be an important prognostic factor. Profound microvascular disease is a pathognomonic feature of SSc, as both vasospasm and structural alterations are present. Such alterations are thought to predict macrovascular atherosclerosis over time. There are contradictory reports regarding the prevalence of atherosclerosis in SSc. According to some authors, the prevalence of atherosclerosis of the large epicardial coronary arteries is similar to that of the general population, in contrast with other rheumatic diseases such as rheumatoid arthritis and systemic lupus erythematosus. However, the level of inflammation in SSc is inferior. Thus, the atherosclerotic process may not be as aggressive and not easily detectable in smaller studies. Echocardiography(especially tissue Doppler imaging), single-photon emission computed tomography, magnetic resonance imaging and cardiac computed tomography are sensitive techniques for earlier detection of both structural and functional scleroderma-related cardiac pathologies. Screening for subclinical cardiac involvement via modern, sensitive tools provides an opportunity for early diagnosis and treatment, which is of crucial importance for a positive outcome.

  2. Pericardial effusion and cardiac tamponade: clinical manifestation of chronic graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.

    Science.gov (United States)

    Ferreira, David Cavalcanti; de Oliveira, José Salvador Rodrigues; Parísio, Katya; Ramalho, Fernanda Maria Morselli

    2014-03-01

    The authors report a case with pericardial effusion and cardiac tamponade as a rare clinical manifestation of chronic graft-versus-host disease in a young man with acute myelogenous leukemia submitted to an allogeneic hematopoietic stem cell transplantation from a related donor.

  3. Infrequent cardiac manifestations of sarcoidosis.

    Science.gov (United States)

    Ashraf, Said; Briasoulis, Alexandros; Afonso, Luis

    Cardiac sarcoidosis (CS) is found in 2-7% of patients with systemic sarcoidosis (SS). Its diagnosis and treatment is challenging, notwithstanding the poor prognosis and treatment. Hereby, we present a case of systemic sarcoidosis with rare cardiac manifestations of severe mitral incompetence and large coronary aneurysm in a previously healthy woman. She underwent successful mitral valve replacement and coronary artery bypass surgery and was maintained on low dose glucocorticoid therapy. Copyright © 2016. Published by Elsevier Inc.

  4. Cardiac Manifestation in Dengue Fever.

    Science.gov (United States)

    Arora, Mohit; Patil, Rekha S

    2016-07-01

    To study the cardiac manifestations of the dengue fever. This one year descriptive study was undertaken at KLES Dr. Prabhakar Kore Hospital and Medical Research Centre, Belgaum under the Department of Medicine. A total of 120 patients with either dengue IgM or IgM and IgG were studied. The assessment of cardiac manifestations was done based on electrocardiogram, 2D echocardiography and cardiac enzymes. Of the 120 patients, 85 (70.83%) were males and the male to female ratio was 2.4:1. The mean age of the patients was 33.02 ± 12.71 years. The commonest clinical presentation was myalgia (97.5%) followed by fever (92.5%). On clinical examination 33.33% of the patients had petecheia and only 9 patients having active bleeding manifestation at the time of presentation. A raised CK-MB and Troponin I was observed in 33.3% and 26.7% patients ECG findings revealed normal rhythm among 95% with 15.8% of them having an abnormal heart rate. Rhythm disturbance was noted in 5% of the patients with AV block being the most common (66.67%). Cardiac manifestation in the form of myocarditis was observed in 37.50% of the patients with a positive correlation with the severity of the dengue fever defined as by W.H.O. criteria. Patients with dengue fever are at high risk of developing myocarditis and rhythm disturbance and therefore require a close cardiac monitoring.

  5. Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.

    Science.gov (United States)

    Carrion, Diego M; Carrion, Andres F

    2012-06-12

    Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment.

  6. Cardiac manifestations of inborn errors of metabolism.

    NARCIS (Netherlands)

    Evangeliou, A.; Papadopoulou-Legbelou, K.; Daphnis, E.; Ganotakis, E.; Vavouranakis, I.; Michailidou, H.; Hitoglou-Makedou, A.; Nicolaidou, P.; Wevers, R.A.; Varlamis, G.

    2007-01-01

    AIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism. This paper also explores the key role of cardiac manifestations in the diagnosis of inborn errors of metabolism in daily practice. METHODS: O

  7. Spontaneous rupture of atrioventricular valve tensor apparatus as late manifestation of anti-Ro/SSA antibody-mediated cardiac disease.

    Science.gov (United States)

    Cuneo, Bettina F; Fruitman, Deborah; Benson, D Woodrow; Ngan, Bo-Yee; Liske, Michael R; Wahren-Herlineus, Marie; Ho, S Yen; Jaeggi, Edgar

    2011-03-01

    Atrioventricular (AV) block and endocardial fibroelastosis associated with dilated cardiomyopathy are the most common clinical manifestations of anti-Ro/SSA-mediated fetal cardiac disease. Valvar dysfunction has not been a prominent feature of this disease; however, recent anecdotal cases have suggested an association between rupture of the AV valve tensor apparatus and maternal anti-Ro/SSA antibodies. In the present study, we have described the clinical and laboratory findings and reviewed the published data for infants of anti-Ro/SSA-positive pregnancies with AV valve insufficiency due to chordal rupture from the papillary muscles. The histopathologic features of the papillary muscle and ventricular free wall and septum biopsy specimens were examined and compared to the sections of AV leaflets from 6 autopsied fetuses with anti-Ro/SSA-mediated complete AV block without chordal disruption. Specific epitopes to the p200 region of Ro52, and Ro60 antibodies were evaluated in cases with chordal rupture. Severe AV valve insufficiency was detected prenatally (as early as 34 weeks of gestation) or postnatally (as late as 182 days) after areas of patchy echogenicity were noted in the papillary muscle at 19 to 22 weeks of gestation. Postnatally, urgent valve surgery was performed in 5 of 6 patients; 1 of 6 patients died preoperatively. All patients tested positive for Ro52. Valve leaflet tissue from the autopsy specimens was normal. The ventricular free wall and septum biopsy specimens from a patient with chordal rupture showed normal tissue; however, the papillary muscle biopsy specimens demonstrated severe atrophy with near total replacement of myocytes by fibrosis and dystrophic calcifications, and negative immunochemistry findings. In conclusion, these findings have defined an underappreciated complication of fetal antibody-mediated cardiac inflammation.

  8. Cardiac Tamponade as a Presenting Manifestation of Infliximab-Induced Lupus in Patient Treated for Crohn’s Disease

    Science.gov (United States)

    Kulairi, Zain; Kam, Michael

    2017-01-01

    Crohn’s disease is characterized by inflammation of the mucosal lining of the gastrointestinal tract. Infliximab is a tumor necrosis factor-α inhibitor that has been associated with increased remission and decreased disease flare-ups. Biological agents such as infliximab have been associated with adverse events. We present a rare case of cardiac tamponade caused by infliximab treatment for Crohn’s disease in a 30-year-old female. She was treated with emergent pericardial window and drainage of pericardial fluid. Infliximab was discontinued, and serositis was treated with steroids. The patient was later successfully rechallenged with vedolizumab. PMID:28138445

  9. Cardiac manifestations of Pallister-Killian syndrome.

    Science.gov (United States)

    Tilton, Richard K; Wilkens, Alisha; Krantz, Ian D; Izumi, Kosuke

    2014-05-01

    Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in association with PKS, the full spectrum of heart disease is still not entirely known. Here, we describe the pattern of cardiac findings of 81 probands with PKS who have had at least one cardiac evaluation, demonstrating structural heart difference in 37% of our cohort (n = 30). Septal defects such as atrial or ventricular septal defects (n = 12) were the most commonly seen congenital heart differences. Additional findings included the occasional occurrence of bicuspid aortic valve, aortic dilatation, and cardiac hypertrophy/cardiomyopathy. We suggest cardiac evaluation for all individuals with PKS at the time of diagnosis as well as subsequent longitudinal follow-up to monitor for the development of cardiomyopathy and aortic dilatation.

  10. Gastrointestinal manifestations of endocrine disease

    Institute of Scientific and Technical Information of China (English)

    Christina Maser; Arnbjorn Toset; Sanziana Roman

    2006-01-01

    The hormonal interactions among the systems throughout the body are not fully understood; many vague clinical symptoms may in fact be manifestations of underlying endocrine diseases. The aim of the following review is to discuss gastrointestinal manifestations of surgically correctable endocrine diseases, focusing on abnormalities of thyroid function, cancer and finally autoimmune diseases. We also review manifestations of pancreatic endocrine tumors, and multiple endocrine neoplasia.

  11. Cutaneous Manifestations of Crohn Disease.

    Science.gov (United States)

    Hagen, Joshua W; Swoger, Jason M; Grandinetti, Lisa M

    2015-07-01

    Awareness of the extraintestinal manifestations of Crohn disease is increasing in dermatology and gastroenterology, with enhanced identification of entities that range from granulomatous diseases recapitulating the underlying inflammatory bowel disease to reactive conditions and associated dermatoses. In this review, the underlying etiopathology of Crohn disease is discussed, and how this mirrors certain skin manifestations that present in a subset of patients is explored. The array of extraintestinal manifestations that do not share a similar pathology, but which are often seen in association with inflammatory bowel disease, is also discussed. Treatment and pathogenetic mechanisms, where available, are discussed.

  12. Parasitic Diseases With Cutaneous Manifestations.

    Science.gov (United States)

    Ash, Mark M; Phillips, Charles M

    2016-01-01

    Parasitic diseases result in a significant global health burden. While often thought to be isolated to returning travelers, parasitic diseases can also be acquired locally in the United States. Therefore, clinicians must be aware of the cutaneous manifestations of parasitic diseases to allow for prompt recognition, effective management, and subsequent mitigation of complications. This commentary also reviews pharmacologic treatment options for several common diseases.

  13. Cardiac manifestations of myotonic dystrophy type 1

    DEFF Research Database (Denmark)

    Petri, Helle; Vissing, John; Witting, Nanna

    2012-01-01

    To estimate the degree of cardiac involvement regarding left ventricular ejection fraction, conduction abnormalities, arrhythmia, risk of sudden cardiac death (SCD) and the associations between cardiac involvement and cytosine-thymine-guanine (CTG)-repeat, neuromuscular involvement, age and gende...... in patients with myotonic dystrophy type 1 (MD1)....

  14. ORBITAL MANIFESTATIONS OF SINUS DISEASE

    Directory of Open Access Journals (Sweden)

    Jyothirmayi

    2015-01-01

    Full Text Available AIM : To study the orbital manifestations in patients with sinus disease. METHODS : Patients wit h paranasal sinus disease presenting to OPD at Government ENT Hospital, AMC, Visakhapatnam from January 2012 to June 2014 were screened for orbital manifestations. Out of these, thirteen patients with orbital disease were referred to GREH, AMC, Visakhapatn am and were thoroughly investigated and managed appropriately. RESULTS : Out of the 14 patients 4 were female and 10 were male. Age ranged from 19 years to 70 years. 5 had maxillary sinus disease (4 - carcinoma and 1 case of mucormycosis. Frontal sinus dis ease was seen in two patients, one fibrous dysplasia and one malignancy. Five patients had ethmoidal sinus disease of which three patients were found to have ethmoidal sinus tumour (Malignant melanoma, Squamous cell Carcinoma. More than two sinuses were i nvolved in 2 patients. CONCLUSIONS : Early screening of patients with sinus disease by an Ophthalmologist can help in preventing severe vision threatening orbital complications.

  15. Cutaneous manifestations in celiac disease

    Institute of Scientific and Technical Information of China (English)

    L Abenavoli; G Addolorato; I Proietti; L Leggio; A Ferrulli; L Vonghia; R Capizzi; M Rotoli; PL Amerio; G Gasbarrini

    2006-01-01

    Celiac disease (CD) is an autoimmune gluten-dependent enteropathy characterized by atrophy of intestinal villi that improves after gluten-free diet (GFD). CD is often associated with extra-intestinal manifestations;among them, several skin diseases are described in CD patients. The present review reports all CD-associated skin manifestations described in the literature and tries to analyze the possible mechanisms involved in this association. The opportunity to evaluate the possible presence of CD in patients affected by skin disorders is discussed.

  16. Dermatologic Manifestations of Systemic Diseases.

    Science.gov (United States)

    Valdez, Maryn Anne; Isamah, Nwamaka; Northway, Rebecca M

    2015-12-01

    Dermatologic complaints are encountered frequently by the primary care provider. Patients often are required as well as want to see their primary care provider before referral to a specialist. Therefore, primary care providers must be skilled in a variety of topics including dermatology. Certain dermatologic manifestations are associated with, or indicative of, systemic diseases. Primary care providers must be knowledgeable in diagnosis, evaluation, and treatment of dermatologic conditions, as well as when to appropriately refer. This article reviews common dermatologic manifestations of systemic diseases. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Articular manifestations in patients with Lyme disease.

    Science.gov (United States)

    Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

    To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  18. Gaucher disease and bone manifestations.

    Science.gov (United States)

    Marcucci, Gemma; Zimran, Ari; Bembi, Bruno; Kanis, John; Reginster, Jean-Yves; Rizzoli, Renè; Cooper, Cyrus; Brandi, Maria Luisa

    2014-12-01

    Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.

  19. [Corneal manifestations in systemic diseases].

    Science.gov (United States)

    Zarranz Ventura, J; De Nova, E; Moreno-Montañés, J

    2008-01-01

    Systemic diseases affecting the cornea have a wide range of manifestations. The detailed study of all pathologies that cause corneal alteration is unapproachable, so we have centered our interest in the most prevalent or characteristic of them. In this paper we have divided these pathologies in sections to facilitate their study. Pulmonar and conective tissue (like colagen, rheumatologic and idiopathic inflamatory diseases), dermatologic, cardiovascular, hematologic, digestive and hepatopancreatic diseases with corneal alteration are described. Endocrine and metabolic diseases, malnutrition and carential states are also studied, as well as some otorhinolaryngologic and genetic diseases that affect the cornea. Finally, a brief report of ocular toxicity induced by drugs is referred.

  20. Ocular manifestations of mitochondrial disease

    Directory of Open Access Journals (Sweden)

    S. D. Mathebula

    2012-12-01

    Full Text Available Mitochondrial disease caused by mutations in mitochondrial DNA is recognized as one of the most common causes of inherited neurological disease. Neuro-ophthalmic manifestations are a common feature of mitochondrial disease.  Optic atrophy causing central visual loss is the dominant feature of mitochondrial DNA diseases. Nystagmus is also encountered in mitochondrial disease.Although optometrists are not involved with the management of mitochondrial disease, they are likely to see more patients with this disease. Oph-thalmic examination forms part of the clinical assessment of mitochondrial disease. Mitochondrial disease should be suspected in any patient with unexplained optic neuropathy, ophthalmoplegia, pigmentary retinopathy or retrochiasmal visual loss. Despite considerable advances in the under-standing of mitochondrial genetics and the patho-genesis of mtDNA diseases, no effective treatment options are currently available for patients withmitochondrial dysfunction. (S Afr Optom 201271(1 46-50

  1. Systemic diseases with cutaneous manifestations.

    Science.gov (United States)

    Merchant, S R; Taboada, J

    1995-07-01

    The purpose of this article is to briefly discuss the following cutaneous manifestations of selected systemic diseases: poxvirus; feline leukemia virus (FeLV); feline immunodeficiency virus (FIV); herpesvirus; calcivirus; pseudorabies; plague; tularemia; toxoplasmosis; leishmania; hypothyroidism; hyperthyroidism; hyperadrenocorticism; diabetes mellitus; acromegaly; thallium poisoning; pancreatic disease; hypereosinophilic syndrome; mucopolysaccharidosis; and pansteatitis. Recognition of these cutaneous signs may help alert the clinician to the possibility of an internal disorder so that the appropriate diagnostic tests can be considered.

  2. Breast manifestations of systemic diseases

    Directory of Open Access Journals (Sweden)

    Dilaveri CA

    2012-02-01

    Full Text Available Christina A Dilaveri, Maire Brid Mac Bride, Nicole P Sandhu, Lonzetta Neal, Karthik Ghosh, Dietlind L Wahner-RoedlerDivision of General Internal Medicine, Mayo Clinic, Rochester, MN, USAAbstract: Although much emphasis has been placed on the primary presentations of breast cancer, little focus has been placed on how systemic illnesses may affect the breast. In this article, we discuss systemic illnesses that can manifest in the breast. We summarize the clinical features, imaging, histopathology, and treatment recommendations for endocrine, vascular, systemic inflammatory, infectious, and hematologic diseases, as well as for the extramammary malignancies that can present in the breast. Despite the rarity of these manifestations of systemic disease, knowledge of these conditions is critical to the appropriate evaluation and treatment of patients presenting with breast symptoms.Keywords: breast, endocrine, hematologic, infectious, vascular

  3. Respiratory manifestations in endocrine diseases

    OpenAIRE

    LENCU, CODRU?A; ALEXESCU, TEODORA; PETRULEA, MIRELA; LENCU, MONICA

    2016-01-01

    The control mechanisms of respiration as a vital function are complex: voluntary ? cortical, and involuntary ? metabolic, neural, emotional and endocrine. Hormones and hypothalamic neuropeptides (that act as neurotrasmitters and neuromodulators in the central nervous system) play a role in the regulation of respiration and in bronchopulmonary morphology. This article presents respiratory manifestations in adult endocrine diseases that evolve with hormone deficit or hypersecretion. In hyperthy...

  4. Life-Threatening Cardiac Manifestations of Pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Luiz R. Leite

    2010-01-01

    Full Text Available Pheochromocytoma is a catecholamine-secreting tumor of the adrenal glands, usually with benign manifestations, whose typical clinical presentation includes the triad of headache, palpitations and diaphoresis. However, a wide range of signs and symptoms may be present. In the cardiovascular system, the most common signs are labile hypertension and sinus tachycardia. Systolic heart failure and ST-segment deviations mimicking myocardial infarction have also been reported, as well as QT interval prolongation and, rarely, ventricular tachycardia. We describe a challenging diagnosis of pheochromocytoma with many cardiovascular manifestations, which could have been missed due to the absence of typical symptoms.

  5. Neurological manifestations in Fabry disease

    Institute of Scientific and Technical Information of China (English)

    Joseph Bruno Bidin Brooks; Yara Dadalti Fragoso

    2016-01-01

    Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is an X-linked lysosome storage disorder that results in α-galactosidase A deifciency. The subsequent accumulation of glycosphingolipids is more evident in vascular endothelium and smooth-muscle cells. The resulting effect of the deposition is generalized inlfammation and vasculopathy, which can also affect the central and peripheral nervous system. FD progresses with kidney dysfunction, angiokeratoma of the skin, cardiomyopathy, cerebrovascular events and neurological disorders. In the present review, the neurological manifestations of FD are summarized with emphasis on cerebral vasculopathy, cochlear nerve dysfunction, psychiatric and cognitive symptoms, autonomic dysfunction and peripheral neuropathy. Enzyme replacement therapy is also discussed in the light of its more prominent effects when administered early in life, which make it essential to diagnose FD as soon as possible.

  6. Endocrine manifestations of celiac disease

    Directory of Open Access Journals (Sweden)

    R Philip

    2012-01-01

    Full Text Available Background: Celiac disease can have extra gastrointestinal tract (GIT presentations, most of which are endocrine. The aim of this study was to present patients diagnosed to have celiac disease from an endocrine department and to study the prevalence of endocrinopathies in celiac disease. Materials and Methods: A total of 36 patients from the endocrinology department (LLRM Medical College, Meerut between January 2011 and July 2012 and who were diagnosed to have celiac disease were included in the study. Results: Short stature was the commonest presentation (25%, other presentations included short stature and delayed puberty (20%, delayed puberty (11%, screening for celiac disease in type-1 DM patients (17%, rickets (6%, anemia not responding to oral therapy (6%, type-1 DM with recurrent hypoglycaemia (6%, and osteomalacia (3%. The endocrine manifestations include (after complete evaluation short stature (58%, delayed puberty (31%, elevated alkaline phospahatase (67%, low calcium (22%, X-rays suggestive of osteomalacia or rickets (8%, capopedal spasm (6%, and night blindness (6%. Anti-TPO antibody positivity was found in 53%, hypothyroidism in 28%, subclinical hypothyroidism in 17%, and type-1 DM in 25% of the patients. A total of 14% patients had no GI symptoms. Conclusion: Celiac disease is an endocrine disrupter as well as the great masquerader having varied presentations including short stature, delayed puberty, and rickets. Some patients who have celiac disease may not have any GI symptoms, making the diagnosis all the more difficult. Also, there is significant incidence of celiac disease with hypothyroidism and type-1 DM, making screening for it important in these diseases.

  7. Respiratory manifestations in endocrine diseases.

    Science.gov (United States)

    Lencu, Codruţa; Alexescu, Teodora; Petrulea, Mirela; Lencu, Monica

    2016-01-01

    The control mechanisms of respiration as a vital function are complex: voluntary - cortical, and involuntary - metabolic, neural, emotional and endocrine. Hormones and hypothalamic neuropeptides (that act as neurotrasmitters and neuromodulators in the central nervous system) play a role in the regulation of respiration and in bronchopulmonary morphology. This article presents respiratory manifestations in adult endocrine diseases that evolve with hormone deficit or hypersecretion. In hyperthyroidism, patients develop ventilation disorders, obstructive and central sleep apnea, and pleural collection. The respiratory abnormalities in hyperthyroidism as a result of the hypermetabolic action of thyroid hormones are hyperventilation, myopathy and cardiovascular involvement; recent studies have reported pulmonary arterial hypertension in Graves' disease, as a result of the association of several mechanisms. Thyroid hypertrophy can induce through compression of the upper airways dyspnea, stridor, wheezing and cough. The respiratory disorders in acromegaly are ventilatory dysfunction and sleep apnea, which contribute to an unfavorable evolution of the disease. Respiratory changes in parathyroid, adrenal and reproductive system diseases have been described. Respiratory disorders should be recognized, investigated and monitored by medical practitioners of various specialties (family physicians, internists, endocrinologists, pneumologists, cardiologists). They are frequently severe, causing an unfavorable evolution of the associated endocrine and respiratory disease.

  8. Cutaneous manifestations of inflammatory bowel disease

    Directory of Open Access Journals (Sweden)

    Al Roujayee Abdulaziz

    2007-01-01

    Full Text Available Inflammatory bowel disease (IBD has many extraintestinal manifestations, and skin lesions are one of the most frequently described extraintestinal findings. Reports indicate an incidence of cutaneous manifestations ranging from 2 to 34%, Cutaneous manifestations are usually related to the activity of the bowel disease but may have an independent course. In this review we aim to address the various cutaneous manifestations associated with IBD, their impact on the disease course, and the treatment options available.

  9. Cardiac Manifestations of Toxocariasis: A Case Report of Loffler Endocarditis and Literature Review

    OpenAIRE

    Dorin, Joséphine; Filippetti, Laura; Debourgogne, Anne; Voilliot, Damien; Huttin, Olivier; Machouart, Marie

    2015-01-01

    International audience; This paper reports a case of toxocariasis with cardiac manifestations. The patient was a 48-year-old man suffering from a Löffler endocarditis with hypereosinophilia. ELISA and Western blot tests confirmed the diagnosis of toxocariasis. The disease was successfully managed by a combination of albendazole and corticosteroids.A few cases of cardiac toxocariasis have been described previously in the literature focusing on this unusual location. Eosinophils may have a key ...

  10. Cystic thymic diseases: CT manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Song, Soon Young; Choi, Yo Won; Jeon, Eui Yong; Jeon, Seok Chol; Seo, Heung Suk; Hahm, Chang Kok [School of Medicine, Hanyang University, Seoul (Korea, Republic of)

    1995-09-15

    To describe CT findings and differential points of cystic thymic lesions. We evaluated retrospectively total 19 masses with well marginated cystic lesions at thymic area on CT scans. They were 10 teratomas, 3 congenital thymic cysts, 2 multilocular thymic cysts(associated with thymoma and myasthenia gravis in each), 2 cysts Assciated with thymic Hodgkin's lymphomas an ectopic parathyroid cyst, and an infected thymic cyst. The radiological abnormalities evaluated were thickness of the wall, presence or abscene of septa, mural nodule, solid component, calcification and fat component. All three cases of congenital thymic cysts and an ectopic parathyroid cyst appeared as thin-walled unilocular cyst with homogeneous internal density and without identifiable solid component. In multilocular thymic cyst, there were thick wall and solid components(n =2), thick internal septa and calcifications(n = 1). The cysts of teratomas manifested thick walls(n = 9), internal septa(n = 4), calcifications(n = 6), fat components(n = 4), and solid components(n = 4). Cysts in Hodgkin's diseases appeared as multilocular or unilocular and had thick wall and septa without calcification. Infected thymic cyst presented with multilocular cystic mass with identifiable wall and septa, calcification, and solid components. The thymic diseases with cystic lesion include teratomas, congenital thymic cysts, multilocular thymic cysts, parathyroid cyst, and Hodgkin's disease. Congenital thymic cyst and ectopic parathyroid cyst are thin-walled unilocular cystic lesions. Cystic lesions associated with teratoma, Hodgkin's disease, and multilocular thymic cyst are thick-walled cystic lesions with or without solid component.

  11. Arrhythmia as a cardiac manifestation in MELAS syndrome.

    Science.gov (United States)

    Thomas, Tamara; Craigen, William J; Moore, Ryan; Czosek, Richard; Jefferies, John L

    2015-09-01

    A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new finding of atrial tachycardia which may represent the potential for subclinical arrhythmia in this population.

  12. Arrhythmia as a cardiac manifestation in MELAS syndrome

    Directory of Open Access Journals (Sweden)

    Tamara Thomas

    2015-09-01

    Full Text Available A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS syndrome had progressive left ventricular hypertrophy (LVH on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new finding of atrial tachycardia which may represent the potential for subclinical arrhythmia in this population.

  13. Ischemic Hepatitis as the Presenting Manifestation of Cardiac Amyloidosis

    Directory of Open Access Journals (Sweden)

    Chelsey A. Petz MD

    2014-11-01

    Full Text Available An abrupt elevation in aminotransferases without clear etiology may be attributed to hypoxic hepatitis. Underlying cardiac dysfunction, an important clinical clue, is often overlooked as a cause of hypoxic hepatitis, and understanding the interdependence of the heart and liver is crucial in making this diagnosis. Causes of cardiac dysfunction may include any of many different diagnoses; infiltrative heart disease is a rare cause of cardiac dysfunction, with amyloidosis being the most common among this category of pathologies. More advanced imaging techniques have improved the ability to diagnose infiltrative heart disease, thus allowing quicker diagnosis of conditions such as amyloidosis.

  14. Review of Cardiac Disease in Nemaline Myopathy.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia

    2015-12-01

    Little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy. This review summarizes and discusses findings concerning the type, prevalence, diagnosis, treatment, and outcome of cardiac involvement in nemaline myopathy. Review of publications about nemaline myopathy and cardiac disease. Altogether, 35 patients with nemaline myopathy with cardiac disease were identified. Age at presentation ranged from 0 to 62 years. In 30 individuals whose gender was described, 22 were male and eight were female. Onset was congenital in 16 patients, infantile in five, and adult in four. Nine patients presented with dilated cardiomyopathy, six with hypertrophic cardiomyopathy, and one with nonspecific cardiomyopathy. Among those with cardiomyopathy, four developed heart failure. One patient experienced sudden cardiac death. A ventricular septal defect was described in two patients. Cardiac treatment included drugs for heart failure (eight patients), implantable cardioverter-defibrillator implantation (one patient), and heart transplant (three patients). Four patients received noninvasive positive-pressure ventilation and two continuous positive-pressure ventilation. The outcome was fatal in 11 patients. Cardiac disease in nemaline myopathy manifests as cardiomyopathy leading to heart failure. If respiratory muscles are affected, the right side of the heart may be secondarily involved. Early detection of cardiac involvement is essential since effective treatment for cardiac disease in nemaline myopathy may be available. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. [Lyme disease--clinical manifestations and treatment].

    Science.gov (United States)

    Stock, Ingo

    2016-05-01

    Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

  16. Cardiac manifestations of patients with mitochondrial disease%回顾性调查线粒体疾病患者的心脏病变

    Institute of Scientific and Technical Information of China (English)

    张丽华; 方理刚; 程中伟; 方全

    2009-01-01

    Objective To analyze the cardiac manifestations of mitochondriopathy patients. Methods We retrospectively analyzed the clinical (Electrocardiogram, Hoher monitoring, echocardiogram and laboratory examinations) and pathological data of 90 mitochondriopathy patients diagnosed within recent 20 years. The cardiac involvement data from these patients were summarized. Results Hypertrophic eardiomyopathy was found in 2 patients and dilated cardiomyopathy in 3 patients Mitochondriopathy diagnosis was made in 1 patient two years after heart transplantation due to heart failure resulting from previously diagnosed hypertrophic cardiomyopathy with noncompaction. The prevalence of cardiomyopathy is 5. 6% (5/90). The prevalence of various arrhythmias was 22. 2% (20/90). Four patients received permanent pacemaker because of Adams-Stokes attack or bradyarrhythmias ( mitochondriopathy diagnosis was made 1-3 years post pacemaker implantation in 3 cases). History of syncope, respiratory failure, RBBB, atrial fibrillation and episodic ventricular tachyarrhythmias were presented in 1 patient with mitochondriopathy, another mitochondriopathy patient developed atrial tachyarrhythmias. Arrhythmia were present in 14 mitochondriopathy patients including RBBB, bifascicularblock, intraventricularblock, Wolff-Parkinson-White syndrome and short PR interval syndrome. The mtDNA 3243A-G mutation was detected in 8 patients. Conclusions Incidence of cardiomyopathy, heart failure and severe arrhythmias is high in patients with mitochondriopathy. Therefore, young cardiomyopathy patients with severe conduction block disorders should undergo relevant etiologic and genetic screening for mitochondriopathy and patients with diagnosed mitochondriopathy should regularly receive electrocardiogram and echocardiography examinations for possible cardiac involvement.%目的 分析线粒体疾病心脏受累的表现,提高对该病的认识.方法 回顾北京协和医院20年来诊断的90例线粒体疾病患

  17. Systemic manifestations of oral diseases

    OpenAIRE

    N Chaitanya Babu; Andrea Joan Gomes

    2011-01-01

    The oral cavity is the site of much infectious and inflammatory disease which has been associated with systemic diseases such as diabetes, cardiovascular disease and pre-term low births. This article emphasizes on the oral-systemic disease connection which is now a rapidly advancing area of research. The possible systemic diseases which arise from oral microorganisms are hereby focused.

  18. Neuropsychiatric Manifestations of Parkinson`s Disease

    Directory of Open Access Journals (Sweden)

    Ana Peixinho

    2014-10-01

    Full Text Available Parkinson’s disease affects about 1% of the world population older than 65 years. It’s most frequently considered a movement disorder, but the neuropsychiatric manifestations associated with the disease and/or its treatment may be of equal or greater significance in some patients. We will discuss briefly the epidemiology, physiopathology and diagnosis of Parkinson’s disease, highlighting the neuropsychiatric manifestations: depression, anxiety, psychosis, dementia, sleep disorders, dopamine dysregulation syndrome.

  19. Neuropsychiatric Manifestations of Parkinson`s Disease

    OpenAIRE

    Peixinho, Ana; De Azevedo, Ana Luísa; Simões, Rita Moiron

    2006-01-01

    Parkinson’s disease affects about 1% of the world population older than 65 years. It’s most frequently considered a movement disorder, but the neuropsychiatric manifestations associated with the disease and/or its treatment may be of equal or greater significance in some patients. We will discuss briefly the epidemiology, physiopathology and diagnosis of Parkinson’s disease, highlighting the neuropsychiatric manifestations: depression, anxiety, psychosis, dementia, sleep disorders, dopamine d...

  20. Hepatic manifestations of celiac disease

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    Hugh James Freeman

    2010-05-01

    Full Text Available Hugh James FreemanDepartment of Medicine (Gastroenterology, University of British Columbia, Vancouver, British Columbia, CanadaAbstract: Different hepatic and biliary tract disorders may occur with celiac disease. Some have been hypothesized to share genetic or immunopathogenetic factors, such as primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis. Other hepatic changes in celiac disease may occur with malnutrition resulting from impaired nutrient absorption, including hepatic steatosis. In addition, celiac disease may be associated with rare hepatic complications, such as hepatic T-cell lymphoma.Keywords: celiac disease, autoimmune liver disease, primary biliary cirrhosis, fatty liver, gluten-free diet

  1. Neurologic Manifestations of Childhood Rheumatic Diseases

    Directory of Open Access Journals (Sweden)

    Reza SHIARI

    2012-10-01

    Full Text Available Children with rheumatic disorders may have a wide variety of clinical features ranging from fever or a simple arthritis to complex multisystem autoimmune diseases. Information about the prevalence of neurological manifestations in children with rheumatologic disorders is limited. This review describes the neurologic complications of childhood Rheumatic disease either solely or combined with symptoms of other organs involvement, as a primary manifestation or as a part of other symptoms, additionally.

  2. Pulmonary manifestations of heartworm disease.

    Science.gov (United States)

    Calvert, C A; Rawlings, C A

    1985-09-01

    The clinical signs associated with heartworm disease are the result of changes in the pulmonary arterial system. These clinical signs are the result of either pulmonary hypertension or lung parenchymal disease associated with vascular changes. An increase in pulmonary arterial pressure produces an increase in right ventricular afterload, which may lead to exercise intolerance, syncope, and right-sided congestive heart failure. Coughing, dyspnea, and hemoptysis are the results of pulmonary parenchymal disease.

  3. Neurological Manifestations In Inflammatory Bowel Disease

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    youssef HNACH

    2015-06-01

    Full Text Available IntroductionThe purpose of this retrospective study was to report neurological manifestations noted in patients who were monitored for inflammatory bowel disease, in order to document the pathophysiological, clinical, progressive, and therapeutic characteristics of this entity.Material and methodsWe conducted a retrospective study on patients monitored -in the gastroenterology service in Ibn Sina Hospital in Rabat, Morocco- for inflammatory bowel disease from 1992 till 2013 and who developed neurological manifestations during its course. Patients with iatrogenic complications were excluded, as well as patients with cerebrovascular risk factors.ResultsThere were 6 patients, 4 of whom have developed peripheral manifestations. Electromyography enabled the diagnosis to be made and the outcome was favorable with disappearance of clinical manifestations and normalization of the electromyography.The other 2 patients, monitored for Crohn’s disease, developed ischemic stroke. Cerebral computed tomography angiography provided positive and topographic diagnosis. Two patients were admitted to specialized facilities.ConclusionNeurological manifestations in inflammatory bowel disease are rarely reported.  Peripheral neuropathies and stroke remain the most common manifestations. The mechanisms of these manifestations are not clearly defined yet. Currently, we hypothesize the interaction of immune mediators.

  4. Musculoskeletal Manifestations in Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Giovanni Fornaciari

    2001-01-01

    Full Text Available Muscoloskeletal manifestations are the most common extraintestinal complications of inflammatory bowel disease. Wide ranges in prevalence have been reported, depending on the criteria used to define spondylarthropathy. In 1991, the European Spondylarthropathy Study Group developed classification criteria that included previously neglected cases of undifferentiated spondylarthropathies, which had been ignored in most of the oldest epidemiological studies on inflammatory bowel disease. The spectrum of muscoloskeletal manifestations in inflammatory bowel disease patients includes all of the clinical features of spondylarthropathies: peripheral arthritis, inflammatory spinal pain, dactylitis, enthesitis (Achilles tendinitis and plantar fasciitis, buttock pain and anterior chest wall pain. Radiological evidence of sacroiliitis is common but not obligatory. The articular manifestations begin either concomitantly or subsequent to the bowel disease; however, the onset of spinal disease often precedes the diagnosis of inflammatory bowel disease. The prevalence of the different muscoloskeletal manifestations is similar in ulcerative colitis and Crohn's disease. Symptoms usually disappear after proctocolectomy. The pathogenetic mechanisms that produce the muscoloskeletal manifestations in inflammatory bowel disease are unclear. Several arguments favour an important role of the intestinal mucosa in the development of spondylarthropathy. The natural history is characterized by periods of flares and remission; therefore, the efficacy of treatment is difficult to establish. Most patients respond to rest, physical therapy and nonsteroidal anti-inflammatory drugs, but these drugs may activate bowel disease. Sulphasalazine may be recommended in some patients. There is no indication for the systemic use of steroids.

  5. Perioperative management of cardiac disease.

    Science.gov (United States)

    Aresti, N A; Malik, A A; Ihsan, K M; Aftab, S M E; Khan, W S

    2014-01-01

    Pre-existing cardiac disease contributes significantly to morbidity and mortality amongst patients undergoing non cardiac surgery. Patients with pre-existing cardiac disease or with risk factors for it, have as much as a 3.9% risk of suffering a major perioperative cardiac event (Lee et al 1999, Devereaux 2005). Furthermore, the incidence of perioperative myocardial infarction (MI) is increased 10 to 50 fold in patients with previous coronary events (Jassal 2008).

  6. Endocrine manifestations in celiac disease.

    Science.gov (United States)

    Freeman, Hugh James

    2016-10-14

    Celiac disease (CD) is an autoimmune small intestinal mucosal disorder that often presents with diarrhea, malabsorption and weight loss. Often, one or more associated endocrine disorders may be associated with CD. For this review, methods involved an extensive review of published English-language materials. In children and adolescents, prospective studies have demonstrated a significant relationship to insulin-dependent or type 1 diabetes, whereas in adults, autoimmune forms of thyroid disease, particularly hypothyroidism, may commonly co-exist. In some with CD, multiple glandular endocrinopathies may also occur and complicate the initial presentation of the intestinal disease. In others presenting with an apparent isolated endocrine disorder, serological screening for underlying subclinical CD may prove to be positive, particularly if type 1 diabetes, autoimmune thyroid or other autoimmune endocrine diseases, such as Addison's disease are first detected. A number of reports have also recorded hypoparathyroidism or hypopituitarism or ovarian failure in CD and these may be improved with a strict gluten-free diet.

  7. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin

    2007-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme alpha-galactosidase A. Symptoms arise because of accumulation of globotriaosylceramide in multiple organs, resulting in severely reduced quality of life and premature death....... Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement...

  8. Neurological manifestations in Fabry's disease

    DEFF Research Database (Denmark)

    Møller, Anette Torvin; Jensen, Troels Staehelin

    2007-01-01

    . Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement...... treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry...

  9. Ocular manifestations of Hansen's disease.

    Science.gov (United States)

    Sekhar, G C; Vance, G; Otton, S; Kumar, S V; Stanley, J N; Rao, G N

    1994-01-01

    A detailed ophthalmic evaluation including slitlamp biomicroscopy, measurement of corneal sensitivity using Cochet and Bonnet aesthesiometer, Schirmer's test and Goldmann applanation tonometry was carried out in 89 patients of Hansen's disease attending the leprosy clinic with or without ocular symptoms and willing to undergo eye evaluation. Thirty-one patients had lepromatous leprosy (8 with erythema nodosum leprosum), 56 patients had borderline disease (13 with reversal reactions) and 2 had tuberculoid disease. In addition to the well documented changes of lagophthalmos (6.7%), uveitis (7.3%) and cataracts (19%), we noted prominent corneal nerves in 133 eyes (74.7%), beaded corneal nerves in 19 eyes (10.7%), corneal scarring in 10 eyes (5.6%), corneal hypoaesthesia in 51 eyes (28%) and dry eye in 18 eyes (13%). Beaded corneal nerves and/or stomal infiltrates occurred mainly in the lepromatous group (75%). Ocular hypotony (IOP less than 12 mm Hg) was not seen more frequently in Hansen's as compared to age and sex matched controls with refractive errors or cataracts (33.7%, vs. 37.8%, p = 0.33). Our study highlights the primary corneal involvement with corneal neuropathy as the predominant feature of Hansen's disease.

  10. Cochleovestibular Manifestations in Fabry Disease

    Directory of Open Access Journals (Sweden)

    Alberto Ciceran MD

    2016-09-01

    Full Text Available Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.

  11. Cochleovestibular Manifestations in Fabry Disease

    Directory of Open Access Journals (Sweden)

    Alberto Ciceran MD

    2016-09-01

    Full Text Available Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.

  12. Development of chagas cardiac manifestations among Texas blood donors.

    Science.gov (United States)

    Garcia, Melissa N; Murray, Kristy O; Hotez, Peter J; Rossmann, Susan N; Gorchakov, Rodion; Ontiveros, Alejandra; Woc-Colburn, Laila; Bottazzi, Maria Elena; Rhodes, Charles E; Ballantyne, Christie M; Aguilar, David

    2015-01-01

    Chagas disease, infection with the parasite Trypanosoma cruzi, has recently been identified as an important emerging parasitic disease in the United States. To describe the cardiac abnormalities in T. cruzi-positive blood donors in southeastern Texas, a pilot study of donors who had screened positive from 2007 to 2012 was performed. This one-time assessment included (1) a questionnaire to evaluate the source of infection, cardiac symptoms, and health co-morbidities; (2) electrocardiography; (3) echocardiography if electrocardiographic findings were abnormal; and (4) measurement of a high-sensitivity troponin T biomarker. Of those with confirmed infection, 41% (7 of 17) had electrocardiographic abnormalities consistent with Chagas cardiomyopathy. In addition, 36% (6 of 17) were suspected to be locally acquired cases. High-sensitivity troponin T serum levels increased with cardiac severity. In conclusion, cardiologists should consider Chagas disease in their differential diagnoses for patients who may have clinically compatible electrocardiographic changes or nonischemic cardiomyopathy, even if the patients have no histories of residing in Chagas-endemic countries. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. The chronic gastrointestinal manifestations of Chagas disease

    Directory of Open Access Journals (Sweden)

    Nilce Mitiko Matsuda

    2009-01-01

    Full Text Available Chagas disease is an infectious disease caused by the protozoan Trypanosoma cruzi. The disease mainly affects the nervous system, digestive system and heart. The objective of this review is to revise the literature and summarize the main chronic gastrointestinal manifestations of Chagas disease. The chronic gastrointestinal manifestations of Chagas disease are mainly a result of enteric nervous system impairment caused by T. cruzi infection. The anatomical locations most commonly described to be affected by Chagas disease are salivary glands, esophagus, lower esophageal sphincter, stomach, small intestine, colon, gallbladder and biliary tree. Chagas disease has also been studied in association with Helicobacter pylori infection, interstitial cells of Cajal and the incidence of gastrointestinal cancer.

  14. Case report: cardiac tamponade resembling an acute myocardial infarction as the initial manifestation of metastatic pericardial adenocarcinoma.

    Science.gov (United States)

    Scheinin, Scott A; Sosa-Herrera, Jose

    2014-01-01

    Pericardial malignancies are uncommon, usually metastatic, linked to terminal oncology patients, and rarely diagnosed premortem. A very small number of patients will develop signs and symptoms of malignant pericardial effusion as initial clinical manifestation of neoplastic disease. Among these patients, a minority will progress to a life-threatening cardiac tamponade. It is exceedingly rare for a cardiac tamponade to be the unveiling clinical manifestation of an unknown malignancy, either primary or metastatic to pericardium. We present the case of a 50-year-old male who was admitted to the emergency department with an acute myocardial infarction diagnosis that turned out to be a cardiac tamponade of unknown etiology. Further studies revealed a metastatic pericardial adenocarcinoma with secondary cardiac tamponade. We encourage considering malignancies metastatic to pericardium as probable etiology for large pericardial effusions and cardiac tamponade of unknown etiology.

  15. Musculoskeletal manifestations of Lyme disease.

    Science.gov (United States)

    Steere, A C

    1995-04-24

    Musculoskeletal involvement, particularly arthritis, is a common feature of Lyme disease. Early in the illness, patients may experience migratory musculoskeletal pain in joints, bursae, tendons, muscle, or bone in one or a few locations at a time, frequently lasting only hours or days in a given location. Weeks to months later, after the development of a marked cellular and humoral immune response to the spirochete, untreated patients often have intermittent or chronic monoarticular or oligoarticular arthritis-primarily in large joints, especially the knee-during a period of several years. The diagnosis of Lyme arthritis is usually based on the presence of this characteristic clinical picture, exposure in an endemic area, and an elevated immunoglobulin G antibody response to Borrelia burgdorferi. In addition, spirochetal DNA can often be detected in joint fluid by polymerase chain reaction. Lyme arthritis can usually be treated successfully with 1-month courses of oral doxycycline or amoxicillin or with 2- to 4-week courses of intravenous ceftriaxone. However, patients with certain genetic and immune markers may have persistent arthritis, despite treatment with oral or intravenous antibiotics. B. burgdorferi may occasionally trigger fibromyalgia, a chronic pain syndrome with diffuse joint and muscle symptoms. This syndrome does not appear to respond to antibiotic therapy.

  16. Radiologic manifestations of extra-cardiac complications of infective endocarditis

    Energy Technology Data Exchange (ETDEWEB)

    Colen, Teran W.; Gunn, Martin; Cook, Erin; Dubinsky, Theodore [University of Washington Medical Center, Department of Radiology, 1959 NE Pacific Ave, Box 357115, Seattle, WA (United States)

    2008-11-15

    Infective endocarditis (IE) is a disease with high morbidity and a mortality rate of 9-30%, even with appropriate diagnosis and therapy. Septic emboli, caused by IE, can affect any organ or tissue in the body with an arterial supply and occur in 12-40% of IE cases. The most common extra-cardiac organ system involved in IE is the central nervous system. Other organs frequently involved are the lungs (especially in right-sided IE), spleen, kidneys, liver, and the musculoskeletal system. In addition, the arterial system itself is susceptible to the development of potentially fatal mycotic aneurysms. As extra-cardiac complications often antedate the clinical diagnosis of IE, it is important that the diagnosis is suggested when characteristic findings are encountered during imaging. In addition, imaging is often used to monitor the extent of complications in patients with a known diagnosis of IE. (orig.)

  17. Catatonia: an unusual manifestation of Wilson's disease.

    Science.gov (United States)

    Basu, Aniruddha; Thanapal, Sivakumar; Sood, Mamta; Khandelwal, Sudhir K

    2015-01-01

    Wilson's disease, characterized by abnormal copper accumulation in the human body, may present with psychiatric manifestations in about one-fifth of patients. The authors report a patient with Wilson's disease who initially presented with acute psychosis and later developed catatonic symptoms. The atypical presentation led to a delay in diagnosis and institution of appropriate treatment. Wilson's disease can be ruled out in all young patients presenting with psychiatric symptoms for the first time by screening for a Kayser-Fleischer ring.

  18. Neurologic Manifestations of Childhood Rheumatic Diseases

    Directory of Open Access Journals (Sweden)

    Reza SHIARI

    2013-01-01

    Full Text Available How to Cite this Article: Shiari R. Neurologic Manifestations of Childhood Rheumatic Diseases.  Iran J Child Neurol Autumn 2012; 6(4: 1-7.Children with rheumatic disorders may have a wide variety of clinical features ranging from fever or a simple arthritis to complex multisystem autoimmune diseases. Information about the prevalence of neurological manifestations in children with rheumatologic disorders is limited. This review describes the neurologic complications of childhood Rheumatic disease either solely or combined with symptoms of other organs involvement, as a primary manifestation or as a part of other symptoms, additionally. References1. Benseler S, Schneider R. Central nervous system vasculitisin children. Curr Opin Rheumatol. 2004 Jan;16(1:43-50. 2. Benseler SM. Central nervous system vasculitis in children. Curr Rheumatol Rep. 2006 Dec;8(6:442-9. 3. Mc Carthy HJ, Tizard EJ. Clinical practice: Diagnosis and management of Henoch-Schönlein purpura. Eur J Pediatr.2010 Jun;169(6:643-50. Epub 2009 Dec 12. 4. Robson WL, Leung AK. Henoch-Schönlein purpura. AdvPediatr. 1994;41:163-94. 5. Ostergaard JR, Storm K, Neurologic manifestations of Schönlein-Henoch purpura. Acta Paediatr Scand. 1991Mar;80(3:339-42. 6. Bakkaloğlu SA, Ekim M, Tümer N, Deda G, ErdenI, Erdem T. Cerebral vasculitis in Henoch-Schönlein purpura. Nephrol. Dial Transplant. 2000 Feb;15(2:246-8. 7. Mattoo TK, al-Mutair A, al-Khatib Y, Ali A, al-SohaibaniMO. Group A beta-haemolytic streptococcal infection and Henoch-Schonlein purpura with cardiac, renal and neurological complications. Ann Trop Pediatr. 1997Dec;17(4:381-6. 8. Ha TS, Cha SH. Cerebral vasculitis in Henoch-Schönlein purpura: a case with sequential magnetic resonance imaging. Pediatr Nephrol. 1996;10:634-6. 9. Saket S, Mojtahedzadeh S, Karimi A, Shiari R, ShirvaniF. Relationship between electrolyte abnormalities, ESR,CRP and platelet count with severity of Kawasaki disease.Yafteh. 2009;11(3:5-14. 10

  19. Rheumatic manifestations associated with lung diseases

    Directory of Open Access Journals (Sweden)

    Marco Aurelio Scarpinella Bueno

    2008-03-01

    Full Text Available Rheumatic manifestations in the more prevalent lung diseasessuch as asthma, chronic pulmonary disease or pneumonia are notfrequent. Exceptions to this rule are represented by lung cancerand sarcoidosis, where the appearance of the digital clubbing,hypertrophic osteoarthropathy, and arthtritis can correspond to thefi rst symptoms of the illness.

  20. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.

    Science.gov (United States)

    Jeong, Anna; Wong, Michael

    2016-09-01

    Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. Univariate analysis was used to identify patient characteristics (e.g., age, gender, race, and TSC mutation status) associated with the presence of epilepsy. Individual logistic regression models were built to examine the association between epilepsy and each candidate systemic or neurologic disease variable, controlling for the patient characteristics found to be significant on univariate analysis. Finally, a multivariable logistic regression model was constructed, using the variables found to be significant on the individual analyses as well as the patient characteristics that were significant on univariate analysis. Nearly 88% of our cohort had a history of epilepsy. After adjusting for age, gender, and TSC mutation status, multiple systemic disease manifestations including cardiac rhabdomyomas (odds ratio [OR] 2.3, 95% confidence interval [CI] 1.3-3.9, p = 0.002), retinal hamartomas (OR 2.1, CI 1.0-4.3, p = 0.04), renal cysts (OR 2.1, CI 1.3-3.4, p = 0.002), renal angiomyolipomas (OR 3.0, CI 1.8-5.1, p < 0.001), shagreen patches (OR 1.7, CI 1.0-2.7, p = 0.04), and facial angiofibromas (OR 1.7, CI 1.1-2.9, p = 0.03) were associated with a higher likelihood of epilepsy. In the multivariable logistic regression model, cardiac rhabdomyomas (OR 1.9, CI 1.0-3.5, p = 0.04) remained significantly associated with the presence of epilepsy. The identification of systemic disease manifestations such as cardiac rhabdomyomas that confer a higher risk of epilepsy development in TSC could contribute to disease

  1. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  2. Fatal cardiac tamponade as the first manifestation of acute myeloid leukemia.

    Science.gov (United States)

    Leptidis, John; Aloizos, Stavros; Chlorokostas, Panagiotis; Gourgiotis, Stavros

    2014-10-01

    Acute myeloid leukemia is a hemopoietic myeloid stem cell neoplasm. It is the most common acute leukemia affecting adults,and its incidence increases with age. Acute myeloid leukemia is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. As the leukemic cells keep filling the bone marrow, symptoms of the disease started to appear: fatigue, bleeding, increased frequency of infections, and shortness of breath. Cardiac tamponade or pericardial tamponade is an acute medical condition in which the accumulation of pericardial fluid prevents the function of the heart. Signs and symptoms include Beck triad (hypotension, distended neck veins, and muffled heart sounds), paradoxus pulses, tachycardia, tachypnea, and breathlessness. Pericardial effusion and cardiac tamponade are rare and severe complications of leukemia; they often develop during the radiation therapy, chemotherapy, or infections in the course of leukemia. This study sought to assess the fatal cardiac tamponade as the first manifestation of acute myeloid leukemia (AML). We found no reports in the literature linking these 2 clinical entities. Although the patient had no signs or diagnosis of AML previously, this case was remarkable for the rapidly progressive symptoms and the fatal outcome. The pericardial effusion reaccumulated rapidly after its initial drainage; it is a possible explanation that the leukemic cells interfered with cardiac activity or that they decreased their contractility myocytes secreting a toxic essence.

  3. Ocular manifestations of inflammatory bowel disease.

    Science.gov (United States)

    Thomas, Akshay S; Lin, Phoebe

    2016-11-01

    Extraintestinal manifestations (EIMs) of inflammatory bowel disease (IBD) are numerous and can often involve the eye. This review highlights the ocular complications associated with IBD including the critical role the ophthalmologist can play in the diagnosis of IBD, the pathogenesis of IBD, its ocular complications, and the treatment of ocular inflammation associated with IBD. Polygenic and environmental influences, as well as gut microbial dysbiosis, have been implicated in the pathogenesis of IBD. IBD and its EIMs appear to respond well to TNFα-targeted biologics. IBD is thought to be caused by polygenic and environmental influences, including a dysbiotic gut microbiota. It is a systemic immune-mediated disease with varying types of ocular manifestations that can precede, occur simultaneously, or follow intestinal involvement. The diagnosis of IBD can be confused with other seronegative spondyloarthropathies as well as Behçet's disease. Treatment of IBD-associated ocular inflammation can range from corticosteroids to steroid-sparing immunosuppression such as azathioprine or methotrexate. Refractory disease can respond well to TNFα inhibitors.

  4. Extraintestinal manifestations in inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Silvio Danese; Stefano Semeraro; Alfredo Papa; Italia Roberto; Franco Scaldaferri; Giuseppe Fedeli; Giovanni Gasbarrini; Antonio Gasbarrini

    2005-01-01

    Inflammatory bowel diseases (IBD) can be really considered to be systemic diseases since they are often associated with extraintestinal manifestations,complications, and other autoimmune disorders. Indeed,physicians who care for patients with ulcerative colitis and Crohn's disease, the two major forms of IBD, face a new clinical challenge every day, worsened by the very frequent rate of extraintestinal complications. The goal of this review is to provide an overview and an update on the extraintestinal complications occurring in IBD.Indeed, this paper highlights how virtually almost every organ system can be involved, principally eyes, skin,joints, kidneys, liver and biliary tracts, and vasculature (or vascular system) are the most common sites of systemic IBD and their involvement is dependent on different mechanisms.

  5. Pulmonary manifestations of gastroesophageal reflux disease

    Directory of Open Access Journals (Sweden)

    Gaude Gajanan

    2009-01-01

    Full Text Available Gastroesophageal reflux disease (GERD may cause, trigger or exacerbate many pulmonary diseases. The physiological link between GERD and pulmonary disease has been extensively studied in chronic cough and asthma. A primary care physician often encounters patients with extra esophageal manifestations of GERD in the absence of heartburn. Patients may present with symptoms involving the pulmonary system; noncardiac chest pain; and ear, nose and throat disorders. Local irritation in the esophagus can cause symptoms that vary from indigestion, like chest discomfort and abdominal pain, to coughing and wheezing. If the gastric acid reaches the back of the throat, it may cause a bitter taste in the mouth and/or aspiration of the gastric acid into the lungs. The acid can cause throat irritation, postnasal drip and hoarseness, as well as recurrent cough, chest congestion and lung inflammation leading to asthma and/or bronchitis/ pneumonia. This clinical review examines the potential pathophysiological mechanisms of pulmonary manifestations of GERD. It also reviews relevant clinical information concerning GERD-related chronic cough and asthma. Finally, a potential management strategy for GERD in pulmonary patients is discussed.

  6. Rheumatic manifestations of inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Tatiana Sofía Rodríguez-Reyna; Cynthia Martínez-Reyes; Jesús Kazúo Yamamoto-Furusho

    2009-01-01

    This article reviews the literature concerning rheumatic manifestations of inflammatory bowel disease(IBD), including common immune-mediated pathways,frequency, clinical course and therapy. Musculoskeletal complications are frequent and well-recognized manifestations in IBD, and affect up to 33% of patients with IBD. The strong link between the bowel and the osteo-articular system is suggested by many clinical and experimental observations, notably in HLA-B27 transgenic rats. The autoimmune pathogenic mechanisms shared by IBD and spondyloarthropathies include genetic susceptibility to abnormal antigen presentation,aberrant recognition of self, the presence of autoantibodies against specific antigens shared by the colon and other extra-colonic tissues, and increased intestinal permeability. The response against microorganisms may have an important role through molecular mimicry and other mechanisms. Rheumatic manifestations of IBD have been divided into peripheral arthritis, and axial involvement, including sacroiliitis,with or without spondylitis, similar to idiopathic ankylosing spondylitis. Other periarticular features can occur,including enthesopathy, tendonitis, clubbing, periostitis,and granulomatous lesions of joints and bones.Osteoporosis and osteomalacia secondary to IBD and iatrogenic complications can also occur. The management of the rheumatic manifestations of IBD consists of physical therapy in combination with local injection of corticosteroids and nonsteroidal anti-inflammatory drugs; caution is in order however, because of their possible harmful effects on intestinal integrity, permeability,and even on gut inflammation. Sulfasalazine,methotrexate, azathioprine, cyclosporine and leflunomide should be used for selected indications. In some cases, tumor necrosis factor-α blocking agents should be considered as first-line therapy.

  7. Cardiopulmonary manifestations of isolated pulmonary valve infective endocarditis demonstrated with cardiac CT.

    Science.gov (United States)

    Passen, Edward; Feng, Zekun

    2015-01-01

    Right-sided infective endocarditis involving the pulmonary valve is rare. This pictorial essay discusses the use and findings of cardiac CT combined with delayed chest CT and noncontrast chest CT of pulmonary valve endocarditis. Cardiac CT is able to show the full spectrum of right-sided endocarditis cardiopulmonary features including manifestations that cannot be demonstrated by echocardiography.

  8. Cardiac tamponade - unusual clinical manifestation of undiagnosed malignant neoplasm.

    Science.gov (United States)

    Perek, B; Tomaszewska, I; Stefaniak, S; Katynska, I; Jemielity, M

    2016-01-01

    Cardiac tamponade may be the first or predominant symptom of some pathologies but its etiology is not uncommonly unknown on admission to hospital. The purpose of this study was to evaluate the predominant causes of cardiac tamponade in previously healthy patients treated emergently in a single cardiac surgical center. The study involved 81 patients with the mean age of 58.1±16.0 years who underwent emergent subxyphoid pericardiotomy due to cardiac tamponade. Pericardial effusion was analyzed macro- and microscopically. Examinations done in the cardiac surgical department revealed pericarditis secondary to infection (n=17) or autoimmunologic processes (n=2) and malignancy in 18 patients (predominantly of the lungs (n=11)). Pericardial effusion obtained from patients with viral and autoimmunologic-induced pericarditis was straw-color and odorless while with bacterial infections dark yellow, iridescent and usually malodorous. Additional workup in the regional hospitals enabled to reveal malignant tumors in 29 patients, leukemia or lymphoma in 5 subjects. In all but one of the neoplastic cases, pericardial fluid was turbid and dark red or plummy. In 10 patients etiology of tamponade remained unknown. In conclusion, cardiac tamponade in previously healthy patients may be occasionally the predominant symptom of cancer, especially of the lungs. Macroscopic intraoperative appearance of pericardial fluid may be helpful in identification of causative condition of cardiac tamponade.

  9. Crohn’s Disease Ocular Manifestations

    Directory of Open Access Journals (Sweden)

    Koev Kr.

    2014-12-01

    Full Text Available Crohn’s disease is an inflammatory bowel disease which causes inflammation of the digestive tract. Crohn’s disease most frequently affects the ileum and the colon. In the active stage of the disease signs and symptoms may include diarrhea, abdominal pain and cramping, blood in the stools, reduced appetite and weight loss. In patients with severe Crohn’s disease the following signs and symptoms may be observed: fever, fatigue, arthritis, eye inflammation, oral ulcers, skin disorders, inflammation of the liver or bile ducts or delayed growth. Heredity and dysfunctions of the immune system are considered to cause the development of Crohn’s disease. About 10% of people with inflammatory bowel disease have also ocular problems. The most common ocular manifestations of Crohn’s disease are uveitis, iritis, episcleritis, keratopathy, keratoconjunctivitis and retinal vasculitis. Untreated uveitis may cause glaucoma and vision loss. Uveitis and iritis are four times more common in women than in men. In patients in the active stage of the disease, episcleritis also flares. Symptoms of episcleritis include inflammation, bright red spots on the sclera and localized pain. Keratoconjunctivitis in Crohn’s disease is caused by decreased tear production or increased tear film evaporation. Dry eyes can cause itching, burning or infection. Keratopathy usually causes no pain or vision loss, therefore in most cases no treatment is needed. In retinal vasculitis tortuosity of retinal veins, retinal edema at the posterior pole and intraretinal blood near blood vessels are observed. Intravenous fluorescein angiography shows intraretinal neovascularisation and haemorrhage in the posterior pole.

  10. PERIANAL DISEASE AS INITIAL MANIFESTATION OF CROHN’S DISEASE

    Directory of Open Access Journals (Sweden)

    Gaurav Shireesh Babar

    2017-06-01

    Full Text Available BACKGROUND Crohn’s disease is a chronic inflammatory disease, which involves almost all parts of body. Perianal manifestations maybe the initial presentation in these patients, but usually includes other systemic manifestations along with it. This study was conducted to determine presence of perianal disease as the initial manifestation in otherwise asymptomatic Crohn’s patients. MATERIALS AND METHODS This study was conducted in Department of Gastroenterology in a tertiary care hospital. All patients presenting with perianal manifestations were evaluated with colonoscopy and other imaging (in selected cases to identify Crohn’s disease. RESULTS A total of 46 patients were evaluated for perianal disease, out of which 3 patients (6.5% had evidence of Crohn’s disease in colonoscopy. Major presentation in these patients were skin tags (n=27, 58.6%, anal fissures (n=15, 32.6% and fistula (n=4, 8.6%. The major symptoms were pain in perianal region (n=38, 82.6%, bleeding PR (n=23, 50%, anal pruritus (n=8, 17.3% and mucus discharge PR (n=7, 15.2%. CONCLUSION Perianal disease maybe the initial presentation in Crohn’s disease. Judicious evaluation of these perianal lesions helps in early diagnosis of Crohn’s disease.

  11. Skin manifestations of chronic kidney disease.

    Science.gov (United States)

    Robles-Mendez, J C; Vazquez-Martinez, O; Ocampo-Candiani, J

    2015-10-01

    Skin manifestations associated with chronic kidney disease are very common. Most of these conditions present in the end stages and may affect the patient's quality of life. Knowledge of these entities can contribute to establishing an accurate diagnosis and prognosis. Severe renal pruritus is associated with increased mortality and a poor prognosis. Nail exploration can provide clues about albumin and urea levels. Nephrogenic systemic fibrosis is a preventable disease associated with gadolinium contrast. Comorbidities, such as diabetes mellitus and secondary hyperparathyroidism, can lead to acquired perforating dermatosis and calciphylaxis, respectively. Effective and innovative treatments are available for all of these conditions. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  12. Cardiac arrhythmia in Wilson's disease: An oversighted and overlooked entity!

    Science.gov (United States)

    Bajaj, Bhupender Kumar; Wadhwa, Ankur; Singh, Richa; Gupta, Saurabh

    2016-01-01

    Wilson's disease is a multisystem disorder which manifests with hepatic, neurological, musculoskeletal, hematological, renal, and cardiac symptoms. The hepatic and neurological manifestations often overshadow the other system involvement including cardiac symptoms and signs, which may prove fatal. We report a case of a young female who presented with progressive parkinsonian features and dystonia for around 4 months followed 2 months later by the complaint of episodes of light-headedness. She was diagnosed to have Wilson's disease based on the presence of Kayser–Fleischer ring and laboratory parameters of copper metabolism. Electrocardiography of the patient incidentally revealed 2nd degree Mobitz type-1 atrioventricular block explaining her episodes of light-headedness. She was started on penicillamine and trihexyphenidyl. The heart block improved spontaneously. Cardiac autonomic function tests including blood pressure response to standing and heart rate response to standing were observed to be normal. We review the literature on cardiac manifestations of Wilson's disease and emphasize that patients with Wilson's disease should be assessed for cardiac arrhythmia and cardiac dysfunction as these may have therapeutic and prognostic implications. PMID:27695244

  13. Cerebral Small Vessel Disease and Risk of Death, Ischemic Stroke, and Cardiac Complications in Patients With Atherosclerotic Disease The Second Manifestations of ARTerial disease-Magnetic Resonance (SMART-MR) Study

    NARCIS (Netherlands)

    M.M.A. Conijn; R.P. Kloppenborg; A. Algra; W.P.T.M. Mali; L.J. Kappelle; K.L. Vincken; Y. van der Graaf; M.I. Geerlings

    2011-01-01

    Background and Purpose-Cerebral small vessel disease may be related to vascular and nonvascular pathology. We assessed whether lacunar infarcts and white matter lesions on MRI increased the risk of vascular and nonvascular death and future vascular events in patients with atherosclerotic disease. Me

  14. Monogenic Autoinflammatory Diseases: Concept And Clinical Manifestations

    Science.gov (United States)

    De Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela

    2013-01-01

    The objectives of this review are to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary “periodic fever syndromes”, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) 6. very rare conditions presenting with autoinflammation and immunodeficiency. PMID:23711932

  15. Monogenic autoinflammatory diseases: concept and clinical manifestations.

    Science.gov (United States)

    Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela

    2013-06-01

    The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.

  16. Cardiac tamponade as a presenting manifestation of severe hypothyroidism.

    Science.gov (United States)

    Butala, Ashvin; Chaudhari, Shilpa; Sacerdote, Alan

    2013-02-05

    We report a patient who presented to our hospital with unusual symptoms of non-specific complaints and uncontrolled hypertension. Acute cardiac tamponade was suspected from cardiomegaly on routine chest x-ray and confirmed with an echocardiogram. Analysis of the pericardial fluid and other laboratory data ruled out all the common causes except for hypothyroidism as a cause of cardiac tamponade. Tamponade results from increased intrapericardial pressure caused by the accumulation of pericardial fluid. The rapidity of fluid accumulation is a greater factor in the development of tamponade than absolute volume of the effusion. Hypothyroidism is a well-known cause of pericardial effusion. However, tamponade rarely develops owing to a slow rate of accumulation of pericardial fluid. The treatment of hypothyroidic cardiac tamponade is different from other conditions. Thyroxine supplementation is all that is necessary. Rarely, pericardiocentesis is needed in a severely symptomatic patient.

  17. Deep Vein Thrombosis as Initial Manifestation of Whipple Disease

    Directory of Open Access Journals (Sweden)

    Mônica Souza de Miranda Henriques

    2016-11-01

    Full Text Available Introduction: Wipple disease (WD is a rare chronic disease caused by the bacillus Tropheryma whipplei. Constitutive, rheumatologic, gastrointestinal, cardiac, cerebral, lymphatic, cutaneous, and ophthalmological signs are possible systemic symptoms. However, thrombotic manifestations are rarely described as “stroke-like syndrome” or arterial thrombosis. Diagnosis is based on clinical manifestations and pathological examination. Laboratory findings may include anemia, leukocytosis, and thrombocytosis. Objective: We report a case of venous thrombosis as initial manifestation of WD. Case Report: We describe the case of a 53-year-old male with iliofemoral vein thrombosis followed by intermittent diarrhea, loss of appetite, abdominal distension, and bloating. A mild malnutrition state with a weight loss of 13 kg, pallor (+/4 +, presence of lower-limb edema (+/4 +, and hypertympanic distended abdomen occurred. Laboratory tests on admission revealed anemia, positive inflammatory activity tests, and normal coagulation. Endoscopic examination showed villous edema with white dotted infiltrates in the second duodenal portion and intestinal lymphangiectasia in the terminal ileum. Pathological examination revealed numerous macrophages with positive periodic acid-Schiff inclusions. Venous Doppler ultrasound showed extensive deep thrombosis on the left lower limb and recanalization of the femoral vein in the right lower limb. The patient was treated with ceftriaxone and enoxaparin sodium, which led to an improvement of gastrointestinal and thrombosis symptoms. Comments: Hypercoagulability, endothelial damage, vasculitis, and blood stasis are present in T. whipplei infection, which are associated with the activation of inflammatory mechanisms as well as procoagulant and thromboembolic events. WD should be part of the differential diagnosis of diseases that cause venous thrombosis of unknown origin.

  18. [Calpains and cardiac diseases].

    Science.gov (United States)

    Perrin, C; Vergely, C; Rochette, L

    2004-09-01

    Calpains are a large family of cytosolic cysteine proteases composed of at least fourteen distinct isoforms. The family can be divided into two groups on the basis of distribution: ubiquitous and tissue-specific. Our current knowledge about calpains properties apply mainly to the ubiquitous isozymes, micro- and milli-calpain (classic calpains). These forms are activated after autolysis. Translocation and subsequent interactions with phospholipids of these enzymes increase their activity. Calpains are able to cleave a subset of substrates, as enzymes, structural and signalling proteins. Cardiac pathologies, such as heart failure, atrial fibrillation or clinical states particularly ischemia reperfusion, are associated with an increase of cytosolic calcium and in this regards, calpain activation has been evoked as one of the mediators leading to myocardial damage. Calpain activities have been shown to be increased in hearts experimentally subjected to ischemia reperfusion or during hypertrophy, but also in atrial tissue harvested from patients suffering from atrial fibrillations. These activities have been related to an increase of the proteolysis of different myocardial components, particularly, troponins, which are major regulators of the contraction of cardiomyocytes. Moreover, recent works have demonstrated that calpains are involved in the development of myocardial cell death by necrosis or apoptosis.

  19. Extraintestinal Manifestations of Inflammatory Bowel Disease

    Science.gov (United States)

    Schoepfer, Alain; Scharl, Michael; Lakatos, Peter L.; Navarini, Alexander; Rogler, Gerhard

    2015-01-01

    Abstract: Extraintestinal manifestations (EIM) in inflammatory bowel disease (IBD) are frequent and may occur before or after IBD diagnosis. EIM may impact the quality of life for patients with IBD significantly requiring specific treatment depending on the affected organ(s). They most frequently affect joints, skin, or eyes, but can also less frequently involve other organs such as liver, lungs, or pancreas. Certain EIM, such as peripheral arthritis, oral aphthous ulcers, episcleritis, or erythema nodosum, are frequently associated with active intestinal inflammation and usually improve by treatment of the intestinal activity. Other EIM, such as uveitis or ankylosing spondylitis, usually occur independent of intestinal inflammatory activity. For other not so rare EIM, such as pyoderma gangrenosum and primary sclerosing cholangitis, the association with the activity of the underlying IBD is unclear. Successful therapy of EIM is essential for improving quality of life of patients with IBD. Besides other options, tumor necrosis factor antibody therapy is an important therapy for EIM in patients with IBD. PMID:26154136

  20. Corneal manifestations of selected systemic diseases: A review

    Directory of Open Access Journals (Sweden)

    Wayne D.H. Gillan

    2015-03-01

    Full Text Available The corneal manifestations of several selected systemic diseases are reviewed. Metabolic, immunologic and inflammatory and infectious diseases are included. A brief overview of each disease and how it manifests in the cornea is discussed. The importance of conducting a slit-lamp examination on every patient is emphasised.

  1. Uveitis as first manifestation of probably Crohn's disease

    Directory of Open Access Journals (Sweden)

    Ieda Maria Alexandre Barreira

    2012-12-01

    Full Text Available Extraintestinal manifestations of Crohn's disease are common. Although ocular complications of Crohn's disease are infrequent, most ocular manifestations include iritis, uveitis, episcleritis, scleritis and conjuntivitis. We report a patient who developed uveitis two years before diagnose of Crohn's disease.

  2. Primary cardiac B cell lymphoma: Manifestation of Felty's syndrome or TNFα antagonist.

    Science.gov (United States)

    Benzerdjeb, Nazim; Ameur, Fatima; Ikoli, Jean-Fortune; Sevestre, Henri

    2016-12-01

    Primary cardiac B cell lymphoma is rare. To date, fewer than 90 cases have been described in the literature. We report a 67-year-old woman with a 30-year history of rheumatoid arthritis, who had received treatment with leflunomide for 10 years and infliximab for 2 years. Secondary Felty's syndrome appeared. She was admitted to the hospital for abdominal pain. Investigations disclosed a 5cm cardiac mass in the right atrium. Histopathologic examination of tissue specimens obtained at surgical myocardial biopsy demonstrated primary cardiac B cell lymphoma. The other iatrogenic lymphoproliferative disorders are reviewed. This lesion might be a manifestation of long term TNFα antagonists treatment.

  3. Metabolic and hormonal signatures in pre-manifest and manifest Huntington’s disease patients

    Directory of Open Access Journals (Sweden)

    Rui eWang

    2014-06-01

    Full Text Available Huntington's disease (HD is an inherited neurodegenerative disorder typified by involuntary body movements, and psychiatric and cognitive abnormalities. Many HD patients also exhibit metabolic changes including progressive weight loss and appetite dysfunction. Here we have investigated metabolic function in pre-manifest and manifest HD subjects to establish an HD subject metabolic hormonal plasma signature. Individuals at risk for HD who have had predictive genetic testing showing the cytosine-adenine-guanine (CAG expansion causative of HD, but who do not yet present signs and symptoms sufficient for the diagnosis of manifest HD are said to be pre-manifest. Pre-manifest and manifest HD patients, as well as both familial and non-familial controls, were evaluated for multiple peripheral metabolism signals including circulating levels of hormones, growth factors, lipids and cytokines. Both pre-manifest and manifest HD subjects exhibited significantly reduced levels of circulating growth factors, including growth hormone and prolactin. HD-related changes in the levels of metabolic hormones such as ghrelin, glucagon and amylin were also observed. Total cholesterol, HDL-C and LDL-C were significantly decreased in HD subjects. C-reactive protein was significantly elevated in pre-manifest HD subjects. The observation of metabolic alterations, even in subjects considered to be in the pre-manifest stage of HD, suggests that in addition, and prior, to overt neuronal damage, HD affects metabolic hormone secretion and energy regulation, which may shed light on pathogenesis, and provide opportunities for biomarker development.

  4. Metabolic and hormonal signatures in pre-manifest and manifest Huntington's disease patients.

    Science.gov (United States)

    Wang, Rui; Ross, Christopher A; Cai, Huan; Cong, Wei-Na; Daimon, Caitlin M; Carlson, Olga D; Egan, Josephine M; Siddiqui, Sana; Maudsley, Stuart; Martin, Bronwen

    2014-01-01

    Huntington's disease (HD) is an inherited neurodegenerative disorder typified by involuntary body movements, and psychiatric and cognitive abnormalities. Many HD patients also exhibit metabolic changes including progressive weight loss and appetite dysfunction. Here we have investigated metabolic function in pre-manifest and manifest HD subjects to establish an HD subject metabolic hormonal plasma signature. Individuals at risk for HD who have had predictive genetic testing showing the cytosine-adenine-guanine (CAG) expansion causative of HD, but who do not yet present signs and symptoms sufficient for the diagnosis of manifest HD are said to be "pre-manifest." Pre-manifest and manifest HD patients, as well as both familial and non-familial controls, were evaluated for multiple peripheral metabolism signals including circulating levels of hormones, growth factors, lipids, and cytokines. Both pre-manifest and manifest HD subjects exhibited significantly reduced levels of circulating growth factors, including growth hormone and prolactin. HD-related changes in the levels of metabolic hormones such as ghrelin, glucagon, and amylin were also observed. Total cholesterol, HDL-C, and LDL-C were significantly decreased in HD subjects. C-reactive protein was significantly elevated in pre-manifest HD subjects. The observation of metabolic alterations, even in subjects considered to be in the pre-manifest stage of HD, suggests that in addition, and prior, to overt neuronal damage, HD affects metabolic hormone secretion and energy regulation, which may shed light on pathogenesis, and provide opportunities for biomarker development.

  5. Cardiac tamponade as a presenting manifestation of Sheehan syndrome.

    Science.gov (United States)

    Alexander, Varkey; Chattopadhyay, Arijit; Yasin, Khalid; Kurian, Thomas T

    2008-01-01

    We report a 38-year-old Syrian woman who presented with progressive breathlessness, hypotension and circulatory collapse. Echocardiogram revealed a large pericardial effusion with evidence of cardiac tamponade. There was a history of secondary amenorrhoea, loss of axillary and pubic hair following childbirth at 28 years of age. Investigations revealed low levels of gonadotrophins, oestrogen, prolactin and thyrotrophin but normal levels of basal and post-synacthen (ACTH) cortisol. An MRI of the sella showed atrophic changes of the pituitary. She was treated with intravenous fluids, dopamine infusion, intravenous hydrocortisone and thyroxine replacement. The clinical suspicion of Sheehan syndrome facilitated early administration of corticosteroids, adequate thyroxine replacement and rapid resolution of pericardial effusion.

  6. Miscellaneous neurologic, cardiac, pulmonary, and metabolic disorders with rheumatic manifestations.

    Science.gov (United States)

    Larkin, J G

    1993-01-01

    Problems both old and new are featured in this year's selection of rheumatologic aspects of miscellaneous diseases. Paralysis of one or more limbs can lead to many musculoskeletal complications, and the approach of Auguste Dejerine-Klumpke in 1918 can be compared with that of the present-day physician. The reappearance of rheumatic fever continues to excite interest. The specificity of the modified Jones criteria has been questioned, as have the benefits of long-term antibiotic prophylaxis following an attack of the disease. Meanwhile, metabolic disorders may be the first diseases to come under novel scrutiny using the techniques of genetic engineering, with outstanding possibilities for advancing both understanding and treatment. Dermatologic diseases other than psoriasis may be associated with arthropathy. Many of these symptom complexes may be variants of the recently described SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome.

  7. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic, metabo...

  8. [Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].

    Science.gov (United States)

    Márquez, Manlio F; Totomoch-Serra, Armando; Vargas-Alarcón, Gilberto; Cruz-Robles, David; Pellizzon, Oscar A; Cárdenas, Manuel

    2014-01-01

    The Andersen-Tawil syndrome is a cardiac ion channel disease that is inherited in an autosomal dominant way and is classified as type 7 of the congenital long QT syndromes. Affected gene is KCNJ2, which forms the inward rectifier potassium channel designated Kir2.1. This protein is involved in stabilizing the resting membrane potential and controls the duration of the action potential in skeletal muscle and heart. It also participates in the terminal repolarization phase of the action potential in ventricular myocytes and is a major component responsible for the correction in the potassium current during phase 3 of the action potential repolarization. Kir 2.1 channel has a predominant role in skeletal muscle, heart and brain. Alterations in this channel produce flaccid paralysis, arrhythmias, impaired skeletal development primarily in extremities and facial area. In this review we address the disease from the point of view of clinical and molecular diagnosis with emphasis on cardiac manifestations.

  9. Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease

    Science.gov (United States)

    ... The NIDDK would like to thank: John J. Zone, M.D., University of Utah School of Medicine ... Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de ...

  10. Miscellaneous neurologic, cardiac, pulmonary, and metabolic disorders with rheumatic manifestations.

    Science.gov (United States)

    Larkin, J

    1994-01-01

    The First International Workshop on Hypertrophic Osteoarthropathy crystallized the current knowledge of this puzzling syndrome. Cytokine release by large thrombocytes in the periphery is the favored etiology, although specific therapy remains unavailable. An article on the rheumatologic consequences of alcohol is reviewed, along with a number of case reports of joint problems in rare skin and metabolic diseases. Understanding the mechanisms of rarities, including rheumatic fever, interleukin-2-induced arthritis, and a unique "menstrual arthritis" might give insight into the etiology of more common arthropathies.

  11. [Cardiac manifestation of Morgagni hernia--a case report].

    Science.gov (United States)

    Dybała, Andrzej; Celiński, Rafał; Grzywa-Celińska, Anna; Popczak, Grzegorz; Pietraszek-Mamcarz, Jolanta; Mysliński, Wojciech; Mosiewicz, Jerzy; Rymarz, Ewa; Krupski, Witold

    2010-10-01

    The Morgagni hernia is a rare condition caused by the disturbances in the embryonal development of the diaphragm. The high pressure in the abdominal cavity during the persistent constipations or in pregnant women seems to be important predisposing factor apart from advanced age, obesity, vertebral column deformities and the connective tissue diseases. That is why the Morgagni hernia is very rarely diagnosed in children but usually in women in their fifties. We present the case report of our patent who was admitted to the Department of Internal Diseases for the diagnostics of lasting for 3-4 months weakness, chest pains and the episodes of palpitations. During her stay in our Department the routine chest X-ray examination was performed, that showed the unexpected result. The diagnosis of Morgagni hernia was afterwards confirmed in the computed tomography. Even though the risk of the acute abdominal conditions in the dislocated parts of gastro-intestinal tract our patient did not agree to proposed operation.

  12. Cutaneous manifestations of systemic tropical parasitic diseases.

    Science.gov (United States)

    Fernandes, Neil F; Kovarik, Carrie L

    2009-01-01

    Tropical diseases continue to cause significant health problems in developing nations. An overview of illnesses with notable cutaneous findings caused by protozoans and helminthes is provided. The role of the health care provider in disease management is described.

  13. [Non-cardiac surgery in patients with cardiac disease].

    Science.gov (United States)

    Sellevold, Olav F Münter; Stenseth, Roar

    2010-03-25

    Patients with cardiac disease have a higher incidence of cardiovascular events after non-cardiac surgery than those without such disease. This paper provides an overview of perioperative examinations and treatment. Own experience and systematic literature search through work with European guidelines constitute the basis for recommendations given in this article. Beta-blockers should not be discontinued before surgery. High-risk patients may benefit from beta-blockers administered before major non-cardiac surgery. Slow dose titration is recommended. Echocardiography should be performed before preoperative beta-blockade to exclude latent heart failure. Statins should be considered before elective surgery and coronary intervention (stenting or surgery) before high-risk surgery. Otherwise, interventions should be evaluated irrespective of planned non-cardiac surgery. Patients with unstable coronary syndrome should only undergo non-cardiac surgery on vital indications. Neuraxial techniques are optimal for postoperative pain relief and thus for postoperative mobilization. Thromboprophylaxis is important, but increases the risk of epidural haematoma and requires systematic follow-up with respect to diagnostics and treatment. Little evidence supports the use of different anaesthetic methods in cardiac patients that undergo non-cardiac surgery than in other patients. Stable circulation, sufficient oxygenation, good pain relief, thromboprophylaxis, enteral nutrition and early mobilization are important factors for improving the perioperative course. Close cooperation between anaesthesiologist, surgeon and cardiologist improves logistics and treatment.

  14. Clinical Manifestations and Treatment of Lyme Disease.

    Science.gov (United States)

    Sanchez, Joyce L

    2015-12-01

    Lyme disease is the most common tick-borne illness in the United States and is also seen in areas of Europe and Asia. The growing deer and Ixodes species tick populations in many areas underscore the importance of clinicians to properly recognize and treat the different stages of Lyme disease. Controversy regarding the cause and management of persistent symptoms following treatment of Lyme disease persists and is highlighted in this review. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. Pulmonary manifestations of the collagen vascular diseases.

    Science.gov (United States)

    Wiedemann, H P; Matthay, R A

    1989-12-01

    The collagen vascular diseases are a heterogeneous group of immunologically mediated inflammatory disorders. The organs and tissues that compose the respiratory system are frequently affected by these diseases. Potential targets of the inflammation and injury include the lung parenchyma, tracheobronchial tree, pulmonary vasculature, pleura, larynx, and respiratory muscles. In this article, the spectrum of respiratory disease caused by systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis/dermatomyositis, mixed connective tissue disease, ankylosing spondylitis, relapsing polychondritis, and Sjögren's syndrome is reviewed. Where appropriate, therapeutic options are discussed.

  16. Hepatic manifestations of non-steroidal inflammatory bowel disease therapy

    Institute of Scientific and Technical Information of China (English)

    Robert; Hirten; Keith; Sultan; Ashby; Thomas; David; E; Bernstein

    2015-01-01

    Inflammatory bowel disease(IBD) is composed of Crohn’s disease and ulcerative colitis and is manifested by both bowel-related and extraintestinal manifestations. Recently the number of therapeutic options available to treat IBD has dramatically increased, with each new medication having its own mechanism of action and side effect profile. A complete understanding of the hepatotoxicity of these medications is important in order to distinguish these complications from the hepatic manifestations of IBD. This review seeks to evaluate the hepatobiliary complications of non-steroid based IBD medications and aide providers in the recognition and management of these side-effects.

  17. Atypical Kawasaki disease and gastrointestinal manifestations

    OpenAIRE

    Singh, Ravinder; Ward, Colin; Walton, Mark; Persad, Rabin

    2007-01-01

    Kawasaki disease is a syndrome that usually occurs in infants and children. It is characterized by an exanthem, enanthem, fever, lymphadenopathy, and polyarteritis of variable severity. The present report describes cases in which an initial presentation of Kawasaki disease included abdominal and gastrointestinal symptomatology.

  18. Atypical Kawasaki disease and gastrointestinal manifestations

    Science.gov (United States)

    Singh, Ravinder; Ward, Colin; Walton, Mark; Persad, Rabin

    2007-01-01

    Kawasaki disease is a syndrome that usually occurs in infants and children. It is characterized by an exanthem, enanthem, fever, lymphadenopathy, and polyarteritis of variable severity. The present report describes cases in which an initial presentation of Kawasaki disease included abdominal and gastrointestinal symptomatology. PMID:19030366

  19. Neuroendocrine evaluation of cardiac disease.

    Science.gov (United States)

    Sisson, D David

    2004-09-01

    Current evidence favors the view that regardless of etiology, there is a predictable sequence of neuroendocrine activation that operates in most dogs and cats with progressive heart disease and that it is largely, but not entirely, independent of etiology. The natriuretic peptides and sympathetic nervous system seem to be early responders to developing cardiac and hemodynamic perturbations in both species. BNP plays a particularly prominent role in cats, possibly as a reflection of disease etiology. Shortly thereafter, plasma endothelin concentrations rise, reflecting the impact of the hemodynamic alterations on the vasculature. Endothelin and the natriuretic peptides directly suppress plasma renin release but have divergent effects on aldosterone. Activation of the tissue RAAS may operate early on to further the progression of heart failure, but evidence of plasma RAAS activation occurs comparatively late and near the time of development of overt CHF. Finally, in animals with severe CHF that are prone to hypotension,vasopressin levels may also rise, contributing to the retention of free water and congestion that is refractory to diuretics. Although oversimplified, this scenario seems to be consistent with data obtained in human, canine, and feline patients. These observations provide some impetus for evaluating ACE inhibitors in cats and beta-receptor-blocking drugs in dogs and cats. Perhaps we are also a little closer to identifying useful biochemical markers that can aid in the diagnosis of heart disease, guide therapy, and improve our understanding of the biologic processes occurring in our patients. Copyright 2004 Elsevier Inc.

  20. Extraintestinal manifestations and complications in inflammatory bowel diseases

    Institute of Scientific and Technical Information of China (English)

    Katja S Rothfuss; Eduard F Stange; Klaus R Herrlinger

    2006-01-01

    Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory bowel diseases (IBD) that often involve organs other than those of the gastrointestinal tract. These nonintestinal affections are termed extraintestinal symptoms. Differentiating the true extraintestinal manifestations of inflammatory bowel diseases from secondary extraintestinal complications, caused by malnutrition, chronic inflammation or side effects of therapy, may be difficult. This review concentrates on frequency, clinical presentation and therapeutic implications of extraintestinal symptoms in inflammatory bowel diseases. If possible, extraintestinal manifestations are differentiated from extraintestinal complications. Special attention is given to the more recently described sites of involvement; I.e. Thromboembolic events, osteoporosis, pulmonary involvement and affection of the central nervous system.

  1. Genetic diseases with rheumatic manifestations in children.

    Science.gov (United States)

    Prahalad, S; Colbert, R A

    1998-09-01

    Many nonrheumatic diseases of childhood present with musculoskeletal abnormalities. A significant proportion of these disorders have a genetic basis, many involving defects in structural proteins of the connective tissue. Chief among these are collagen mutations resulting in spondyloepiphyseal dysplasias and Ehlers-Danlos syndrome, as well as fibrillin defects associated with Marfan's syndrome. A variety of other chromosomal anomalies are associated with musculoskeletal abnormalities, and may result from as yet unidentified connective tissue defects. In addition, metabolic diseases may result in findings of hyper- or hypomobility, or carpal tunnel syndrome. Helpful clinical clues to identify nonrheumatologic musculoskeletal disease, as well as recent advances in our understanding of the genetic basis of several of these disorders, are reviewed here.

  2. Visual system manifestations of Alzheimer's disease.

    Science.gov (United States)

    Kusne, Yael; Wolf, Andrew B; Townley, Kate; Conway, Mandi; Peyman, Gholam A

    2016-11-19

    Alzheimer's disease (AD) is an increasingly common disease with massive personal and economic costs. While it has long been known that AD impacts the visual system, there has recently been an increased focus on understanding both pathophysiological mechanisms that may be shared between the eye and brain and how related biomarkers could be useful for AD diagnosis. Here, were review pertinent cellular and molecular mechanisms of AD pathophysiology, the presence of AD pathology in the visual system, associated functional changes, and potential development of diagnostic tools based on the visual system. Additionally, we discuss links between AD and visual disorders, including possible pathophysiological mechanisms and their relevance for improving our understanding of AD.

  3. Cardiac disease after radiation therapy for Hodgkin's disease: analysis of 48 patients

    Energy Technology Data Exchange (ETDEWEB)

    Applefeld, M.M.; Wiernik, P.H.

    1983-06-01

    Occult or overt but delayed cardiac disease after thoracic radiotherapy for Hodgkin's disease may be common. Detailed cardiac evaluations were performed in 48 patients with Hodgkin's disease at risk a mean of 97 months after radiotherapy. The study protocol included echocardiography, gated radionuclide ventriculography, and cardiac catheterization. Cardiac disease was found in 46 patients (96%) and included constrictive or occult constrictive pericarditis (24 patients), an abnormal hemodynamic response to a fluid challenge (14 patients), coronary artery disease (6 patients), and left ventricular dysfunction (2 patients). Most patients (53%) had normal echocardiograms. Gated blood pool radionuclide angiocardiography was performed in 42 patients. Excluding patients with occlusive coronary artery disease, the left ventricular ejection fraction at rest (mean 59%) and during exercise (mean 69%) was within normal limits. Thus (1) delayed cardiac disease after radiotherapy is common, (2) chronic pericardial disorders are the most frequent manifestations of this disease, and (3) the prognosis for patients who have radiation-induced cardiac disease is generally favorable.

  4. The Neurologic Manifestations of Mitochondrial Disease

    Science.gov (United States)

    Parikh, Sumit

    2010-01-01

    The nervous system contains some of the body's most metabolically demanding cells that are highly dependent on ATP produced via mitochondrial oxidative phosphorylation. Thus, the neurological system is consistently involved in patients with mitochondrial disease. Symptoms differ depending on the part of the nervous system affected. Although almost…

  5. Management of Musculoskeletal Manifestations in Inflammatory Bowel Disease.

    Science.gov (United States)

    Sheth, Tejas; Pitchumoni, C S; Das, Kiron M

    2015-01-01

    Musculoskeletal manifestations are the most common extraintestinal manifestations in inflammatory bowel diseases. Some appendicular manifestations are independent of gut inflammation and are treated with standard anti-inflammatory strategies. On the other hand, axial involvement is linked to gut inflammatory activity; hence, there is a considerable amount of treatment overlap. Biological therapies have revolutionized management of inflammatory bowel diseases as well as of associated articular manifestations. Newer mechanisms driving gut associated arthropathy have surfaced in the past decade and have enhanced our interests in novel treatment targets. Introduction of biosimilar molecules is expected in the US market in the near future and will provide an opportunity for considerable cost savings on healthcare. A multidisciplinary approach involving a gastroenterologist, rheumatologist, and physical therapist is ideal for these patients.

  6. Management of Musculoskeletal Manifestations in Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Tejas Sheth

    2015-01-01

    Full Text Available Musculoskeletal manifestations are the most common extraintestinal manifestations in inflammatory bowel diseases. Some appendicular manifestations are independent of gut inflammation and are treated with standard anti-inflammatory strategies. On the other hand, axial involvement is linked to gut inflammatory activity; hence, there is a considerable amount of treatment overlap. Biological therapies have revolutionized management of inflammatory bowel diseases as well as of associated articular manifestations. Newer mechanisms driving gut associated arthropathy have surfaced in the past decade and have enhanced our interests in novel treatment targets. Introduction of biosimilar molecules is expected in the US market in the near future and will provide an opportunity for considerable cost savings on healthcare. A multidisciplinary approach involving a gastroenterologist, rheumatologist, and physical therapist is ideal for these patients.

  7. [Intersticial lung disease as the sole manifestation of antisynthetase syndrome].

    Science.gov (United States)

    Monteiro, Paulo; Coutinho, Margarida; Machado, Pedro; Garcia, Jorge; Salvador, Maria João; Inês, Luís; Silva, Jorge; Malcata, Armando

    2009-01-01

    The authors report a clinical case of a woman who had a 3 years diagnosis of hipersensitivity pneumonitis based on intersticial lung disease without other manifestations. The diagnosis of antisynthetase syndrome was made three years after the initial symptoms upon the onset of systemic manifestations with articular involvement, myositis and determination of anti-PL 7 antibodies. In this syndrome, the isolated pulmonary involvement is rare.

  8. Von Hippel-Lindau disease: MRI of abdominal manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Tattersall, Deborah J.; Moore, Niall R

    2002-02-01

    The cranial and spinal manifestations of von Hippel-Lindau disease are well known. Less attention has been given to the varied abdominal manifestations. We present a pictorial review of the cystic and solid tumours involving the kidneys, pancreas and adrenal glands as demonstrated by magnetic resonance imaging. We highlight the advantages of this non-ionizing technique in the assessment of this young group of patients with a protracted screening future. Tattersall, D.J. and Moore N.R. (2002)

  9. Clinical manifestations and cerebral angiographic findings of moyamoya disease

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Objective To study the clinical features and angiographic findings of moyamoya disease (MMD) as well as their relationship. Methods A total of 22 MMD patients received routine digital substraction angiography (DSA). The clinical manifestations and angiographic findings were analyzed. Results Clinical manifestations varied and each patient often had multiple symptoms,including cerebral infarction in 9 patients with an average age of 23.6 (13-39 years) and cerebral hemorrhage in 7 patients with an average age...

  10. The Spectrum of Neurological Manifestations Associated with Gaucher Disease

    Directory of Open Access Journals (Sweden)

    Tamanna Roshan Lal

    2017-03-01

    Full Text Available Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic, type 2 (acute neuronopathic, and type 3 (subacute neuronopathic. Phenotypically, there is a wide spectrum of visceral and neurological manifestations. Enzyme replacement is effective in managing the visceral disease; however, treating the neurological manifestations has proved to be more challenging. This review discusses the various neurological manifestations encountered in Gaucher disease, and provides a brief overview regarding the treatment and ongoing research challenges.

  11. Abdominal (liver, spleen) and bone manifestations of cat scratch disease

    Energy Technology Data Exchange (ETDEWEB)

    Larsen, C.E.; Patrick, L.E. (Egleston Children' s Hospital, Emory Univ., Atlanta, GA (United States). Dept. of Radiology)

    1992-09-01

    Cat scratch disease is usually a self-limiting illness. Patients may develop systemic complications including hepatic granulomas, splenic abscesses, mesenteric adenitis, osteolytic lesions, as well as dermatologic and CNS complications. In this paper the literature is reviewed and two cases are discussed which present the imaging findings in patients with hepatic, splenic, mesenteric, and bony manifestations of cat scratch disease. (orig.).

  12. Cardiac and Respiratory Disease in Aged Horses.

    Science.gov (United States)

    Marr, Celia M

    2016-08-01

    Respiratory and cardiac diseases are common in older horses. Advancing age is a specific risk factor for cardiac murmurs and these are more likely in males and small horses. Airway inflammation is the most common respiratory diagnosis. Recurrent airway obstruction can lead to irreversible structural change and bronchiectasis; with chronic hypoxia, right heart dysfunction and failure can develop. Valvular heart disease most often affects the aortic and/or the mitral valve. Management of comorbidity is an essential element of the therapeutic approach to cardiac and respiratory disease in older equids.

  13. Ocular manifestation in treated multibacillary Hansen's disease.

    Science.gov (United States)

    Parikh, Rajul; Thomas, Saju; Muliyil, Jayaprakash; Parikh, Shefali; Thomas, Ravi

    2009-11-01

    To report the prevalence of ocular morbidity in patients with treated multibacillary Hansen's disease (HD) using modern ophthalmic diagnostic techniques in a rural community endemic for HD. Cross-sectional, observation study. All patients with multibacillary HD who had completed their multidrug therapy and who resided in 4 defined geographical areas in Vellore, Tamil Nadu, India. All participants underwent a complete eye examination that included slit-lamp examination, esthesiometry, gonioscopy, applanation tonometry, and dilated fundus examination, including a stereobiomicroscopic examination of the fundus at an ophthalmic center set up for that purpose. Glaucoma suspects underwent automated perimetry using a Humphrey Field Analyzer (Humphrey Instruments, San Leandro, CA). The prevalence of various ocular disease parameters were reported as mean value with 95% confidence interval. The difference of disease prevalence between various leprosy groups was compared using an unpaired t test. The association between eye symptoms and potentially sight-threatening complications was analyzed using the chi-square test. Three hundred eighty-six of the 446 patients with multibacillary HD residing in the defined areas were evaluated. Four patients (1.04%; 95% confidence interval [CI], 0.0%-2.0%) were bilaterally blind; 33 (8.55%; 95% CI, 5.8%-11.3%) had unilateral blindness. Mean intraocular pressure was 12 mmHg (standard deviation, 4.1 mmHg), and prevalence of glaucoma was 3.6% (95% CI, 1.8%-5.5%). Potentially sight-threatening (PST) pathologic features (corneal anesthesia, lagophthalmos, uveitis, scleritis, and advanced glaucoma) were present in 10.4% (95% CI, 7.4%-13.4%) of patients. Significant cataracts occurred 3 times more frequently in those with polar lepromatous leprosy. The odds ratio for PST pathology in the presence of patient-reported symptoms (pain, redness, inability to close eye, burning, and irritation) was 2.9 (95% CI, 1.34-6.26). Patients who have completed

  14. Cardiac troponin testing in idiopathic inflammatory myopathies and systemic sclerosis-spectrum disorders: biomarkers to distinguish between primary cardiac involvement and low-grade skeletal muscle disease activity.

    Science.gov (United States)

    Hughes, Michael; Lilleker, James B; Herrick, Ariane L; Chinoy, Hector

    2015-05-01

    Primary cardiac involvement, an under-recognised manifestation of the idiopathic inflammatory myopathies (IIM) and systemic sclerosis (SSc)-spectrum disorders, is associated with significant mortality. Within these two conditions, traditional skeletal muscle enzyme testing may not effectively distinguish between skeletal and cardiac muscle involvement, especially in patients with subclinical cardiac disease. Accurate biomarkers are thus required to screen for cardiac disease, to better inform both therapeutic decision-making and treatment response. The widespread uptake of cardiac troponin testing has revolutionised the management of acute coronary syndromes. While cardiac troponin I (cTnI) appears specific to the myocardium, cardiac troponin T (cTnT) is also expressed by skeletal muscle, including regenerating skeletal muscle tissue. There is increasing interest about the role of cardiac troponins as a putative biomarker of primary cardiac involvement in IIM and SSc-spectrum disorders. Herewith we discuss subclinical cardiac disease in IIM and SSc-spectrum disorders, the respective roles of cTnI and cTnT testing, and the re-expression of cTnT within regenerating skeletal muscle tissue. There remains wide variation in access to cardiac troponin testing nationally and internationally. We propose two pragmatic clinical pathways using cardiac troponins, preferably measuring concomitant cTnT followed by confirmatory (cardiac) cTnI to screen patients for subclinical cardiac disease and/or low-grade skeletal muscle disease activity, and also an agenda for future research.

  15. Oral manifestations caused by the linear IgA disease.

    Science.gov (United States)

    Eguia del Valle, Asier; Aguirre Urízar, José Manuel; Martínez Sahuquillo, Angel

    2004-01-01

    The Linear IgA deposit related disease or Linear IgA disease (LAD) is a chronic, uncommon and autoimmunological mucocutaneous disease, characterised by linear IgA deposits along the basement membrane zone. In mainly cases, moreover cutaneous lesions, there are oral mucosal and other mucosal lesions. There are also, some cases published of Linear IgA disease limited to oral mucosa. The known of this disease is important for the establishment of a correct differential diagnosis in cases of blistering mucocutaneous diseases. In this paper, we analyze the most important features of this disease, attending specially to the oral manifestations.

  16. Rapid progression to cardiac tamponade in Erdheim-Chester disease despite treatment with interferon alpha.

    Science.gov (United States)

    Nakhleh, Afif; Slobodin, Gleb; Elias, Nizar; Bejar, Jacob; Odeh, Majed

    2016-07-01

    Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis with heterogeneous clinical manifestations. The most common presentation is bone pains typically involving the long bones. Approximately 75% of the patients develop extraskeletal involvement. Cardiac involvement is seen in up to 45% of the patients, and although, pericardial involvement is the most common cardiac pathology of this rare disease, cardiac tamponade due to ECD has been very rarely reported. We describe a case of a patient found to have ECD with multi-organ involvement and small pericardial effusion, which progressed to cardiac tamponade despite treatment with interferon alpha.

  17. Alzheimer’s disease: oral manifestations, treatment and preventive measures.

    Directory of Open Access Journals (Sweden)

    Jordi Ortega-Martínez

    2014-08-01

    Full Text Available In the treatment of patients with dementia types such as Alzheimer’s, non-current and tough situations are faced. Treatment should be tailored to each stage of the disease and for each patient. In this type of disease, it is very important to involve families and caregivers to improve the patients´ quality of life. The main goal with these patients is prevention. All oral manifestations caused by the lack of inadequate oral hygiene, xerostomia and manifestations derived from taking drugs should be controlled. The aim of this review is to describe the main oral manifestations which can result from this disease and the best treatment options taking into account the patients’ clinical stages.

  18. Calcium pyrophosphate deposition disease: clinical manifestations

    Directory of Open Access Journals (Sweden)

    M.A. Cimmino

    2012-01-01

    Full Text Available Calcium pyrophosphate deposition (CPPD disease is an arthropathy caused by calcium pyrophosphate dihydrate (CPP crystal deposits in articular tissues, most commonly fibrocartilage and hyaline cartilage. According to EULAR, four different clinical presentations can be observed: 1 asymptomatic CPPD; 2 osteoarthritis (OA with CPPD; 3 acute CPP crystal arthritis; 4 chronic CPP inflammatory crystal arthritis. Acute CPP crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying erythema, usually in a large joint, most often the knee, wrist, shoulder, and hip. Occasionally, ligaments, tendons, bursae, bone and the spine can be involved. CPPD of the atlanto-occipital joint (crowned dens syndrome can cause periodic acute cervico-occipital pain with fever, neck stiffness and laboratory inflammatory syndrome. Chronic inflammatory arthritis is characterized by joint swelling, morning stiffness, pain, and high ESR and CRP. The relationship between OA and CPPD is still unclear. The main problem is whether such crystals are directly involved in the pathogenesis of OA or if they are the result of joint degeneration. Diagnosis is based on evaluation of history and clinical features, conventional radiology, and synovial fluid examination. Non-polarized light microscopy should be used initially to screen for CPPD crystals based upon their characteristic morphology, and compensated polarized light microscopy, showing the crystals to be weakly positive birefringent, is recommended for definitive identification, although this last pattern only occurs in about 20% of samples. The main goals of CPPD therapy are control of the acute or chronic inflammatory reaction and prevention of further episodes.

  19. Chronic Urticaria: A Cutaneous Manifestation of Celiac Disease

    Directory of Open Access Journals (Sweden)

    Jessica Haussmann

    2006-01-01

    Full Text Available Celiac disease, or gluten-sensitive enteropathy, is an immune-mediated disease of the small bowel that results in malabsorption. It classically presents with gastrointestinal symptoms including chronic diarrhea, weight loss, abdominal bloating and anorexia. It is becoming more frequently identified in asymptomatic patients with a diagnosis of deficiencies related to malabsorption of iron, folic acid, vitamin B12 and vitamin D. It is increasingly identified as a cause for early or refractory osteoporosis. Occasionally, celiac disease presents with cutaneous manifestations alone. Dermatitis herpetiformis is a well-recognized cutaneous manifestation of celiac disease. Other cutaneous manifestations include alopecia, angular stomatitis and aphthous ulcerations. Described here is a case of a 24-year-old woman who presented with intermittent urticaria and gastrointestinal complaints. She was found to have celiac disease on small-bowel biopsy. Both her gastrointestinal symptoms and urticaria resolved when she was put on a gluten-free diet, suggesting that her urticaria was a cutaneous manifestation of celiac disease.

  20. Mitochondrial quality control in cardiac diseases.

    Directory of Open Access Journals (Sweden)

    Juliane Campos

    2016-10-01

    Full Text Available Disruption of mitochondrial homeostasis is a hallmark of cardiac diseases. Therefore, maintenance of mitochondrial integrity through different surveillance mechanisms is critical for cardiomyocyte survival. In this review, we discuss the most recent findings on the central role of mitochondrial quality control processes including regulation of mitochondrial redox balance, aldehyde metabolism, proteostasis, dynamics and clearance in cardiac diseases, highlighting their potential as therapeutic targets.

  1. [Incidence of skin manifestations of Lyme disease in Croatia].

    Science.gov (United States)

    Kansky, A; Balić-Winter, A; Bolanca-Bumber, S; Skerlev, M

    1992-01-01

    In the study, the most relevant historical data concerning Lyme-borreliosis are shortly reviewed. The most frequent skin manifestations, i.e. erythema cronicum migrans (ECM), lymphocytoma cutis (LCC) and acrodermatitis chronica atrophicans (ACA) are described. The clinical course of Lyme disease and the chronologic review of the most significant data on the disease are given. The frequency of skin manifestations of Lyme-borreliosis in various areas of Croatia from 1988 to 1989 based on the reports of dermatologists throughout Croatia is presented. According to our results, it can be concluded that skin manifestations of Lyme-borreliosis are much more frequent in the central and western parts of Croatia than elsewhere. The authors hope that the use of a fluorescent method for detecting antibodies to Borrelia burgdorferi since 1989 in the Serologic Laboratory of the Department of Dermatology, Salata, Zagreb will lead to more precise results about this disorder in the future.

  2. Neonatal erythroderma as a first manifestation of Menkes disease

    DEFF Research Database (Denmark)

    Galve, Javier; Vicente, Asunción; González-Enseñat, María Antonia;

    2012-01-01

    Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by muta...... as possible to establish prompt treatment with parenteral copper-histidine supplementation to improve prognosis....

  3. Syphilitic hepatitis: an uncommon manifestation of a common disease.

    Science.gov (United States)

    Baveja, Sukriti; Garg, Shilpa; Rajdeo, Amol

    2014-03-01

    Hepatitis being first manifestation of secondary syphilis is rare. Here in we report a case of 39 years old male who was being treated for hepatitis and presented to us subsequently with itchy maculopapular rash. Venereal disease research laboratory (VDRL) titre was 1:16. Treponema pallidum hemagglutination assay (TPHA) was positive. He was treated with intramuscular Benzathine Penicillin. His hepatitis improved rapidly.

  4. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    , metabolic, dermatologic (mucocutaneous), ophthalmologic, hepatobiliary, hematologic, thromboembolic, urinary tract, pulmonary, and pancreatic extraintestinal manifestations related to IBD. Articles were identified through search of the PubMed and Embase databases, the Cochrane Library, and the web sites...... of the European Agency for the Evaluation of Medicinal Products (EMEA) and the US Food and Drug Administration (FDA) (cut-off date October 2009). The search terms 'Crohn's disease', 'inflammatory bowel disease', or 'ulcerative colitis' were combined with the terms 'adalimumab', 'anemia', 'arthritis...

  5. Imaging of Pulmonary Manifestations of Connective Tissue Diseases.

    Science.gov (United States)

    Ahuja, Jitesh; Arora, Deepika; Kanne, Jeffrey P; Henry, Travis S; Godwin, J David

    2016-11-01

    Connective tissue diseases (CTDs) are a heterogeneous group of conditions characterized by circulating autoantibodies and autoimmune-mediated organ damage. Common CTDs with lung manifestations are rheumatoid arthritis, scleroderma or systemic sclerosis, Sjögren syndrome, polymyositis/dermatomyositis, systemic lupus erythematosis, mixed connective tissue disease, and undifferentiated connective tissue disease. The most common histopathologic patterns of CTD-related interstitial lung disease are nonspecific interstitial pneumonia, usual interstitial pneumonia, organizing pneumonia, and lymphoid interstitial pneumonia. Drug treatment of CTDs can cause complications, including opportunistic infection.

  6. [Neurological manifestations of Behçet's disease].

    Science.gov (United States)

    Noel, N; Drier, A; Wechsler, B; Piette, J-C; De Paz, R; Dormont, D; Cacoub, P; Saadoun, D

    2014-02-01

    Neurological manifestations of Behçet's disease (BD) occur in 5.3 to more than 50% of patients. They are divided into two major forms: "parenchymal" lesions, which include mainly meningoencephalitis as opposed to "extra-parenchymal" lesions (i.e. cerebral venous thrombosis and arterial aneurysms). Myelitis or peripheral neuropathy is exceptional. The neuro-Behçet syndrome (NBS) should be considered in the setting of neurological manifestations, particularly headache and pyramidal signs, in a young man diagnosed with BD. However, its recognition may be difficult when neurological manifestations are the presenting features of BD (one third of cases), and requires a thorough knowledge of clinical manifestations and morphological lesions. Thus, parenchymal NB lesions classically exhibit inflammatory characteristics on MRI and are located at the meso-diencephalic junction and in the brainstem, rarely with a supratentorial extension. Meningitis is not systematically associated, and may be absent in about 30% of cases. The pathogenesis of these lesions is incompletely understood, but inflammatory infiltrates include mainly neutrophils and activated T cells (mainly Th17). Differential diagnoses include infectious diseases (herpes, listeria, tuberculosis), and inflammatory diseases (i.e. multiple sclerosis and sarcoidosis). A prompt recognition of NBS should lead to initiate adequate therapies in order to limit the risk of sequelae, relapses or death.

  7. Biological therapy for dermatological manifestations of inflammatory bowel disease.

    Science.gov (United States)

    Zippi, Maddalena; Pica, Roberta; De Nitto, Daniela; Paoluzi, Paolo

    2013-05-16

    Ulcerative colitis and Crohn's disease are the two forms of inflammatory bowel disease (IBD). The advent of biological drugs has significantly changed the management of these conditions. Skin manifestations are not uncommon in IBD. Among the reactive lesions (immune-mediated extraintestinal manifestations), erythema nodosum (EN) and pyoderma gangrenosum (PG) are the two major cutaneous ills associated with IBD, while psoriasis is the dermatological comorbidity disease observed more often. In particular, in the last few years, anti-tumor necrosis factor (TNF)-α agents have been successfully used to treat psoriasis, especially these kinds of lesions that may occur during the treatment with biological therapies. The entity of the paradoxical manifestations has been relatively under reported as most lesions are limited and a causal relationship with the treatment is often poorly understood. The reason for this apparent side-effect of the therapy still remains unclear. Although side effects may occur, their clinical benefits are undoubted. This article reviews the therapeutic effects of the two most widely used anti-TNF-α molecules, infliximab (a fusion protein dimer of the human TNF-α receptor) and adalimumab (a fully human monoclonal antibody to TNF-α), for the treatment of the major cutaneous manifestations associated with IBD (EN, PG and psoriasis).

  8. Adult-onset Still's disease with atypical cutaneous manifestations

    Science.gov (United States)

    Narváez Garcia, Francisco Javier; Pascual, María; López de Recalde, Mercè; Juarez, Pablo; Morales-Ivorra, Isabel; Notario, Jaime; Jucglà, Anna; Nolla, Joan M.

    2017-01-01

    Abstract The diagnosis of adult-onset Still's disease (AOSD) can be very difficult. There are no specific tests available, and diagnosis is usually based on a symptom complex and the well-described typical evanescent rash seen in the majority of patients. However, in recent years, other atypical cutaneous manifestations of AOSD have been reported. These atypical skin eruptions often present in addition to the typical evanescent rash but may also be the only skin manifestation, resulting in delayed diagnosis because of under-recognition. In this study, we present 3 new cases of AOSD with atypical cutaneous manifestations diagnosed during a 30-year period in our department and review 78 additional cases previously reported (PubMed 1990–2016). These 81 patients form the basis of the present analysis. The overall prevalence of atypical cutaneous manifestations in our AOSD population was 14%. These manifestations may appear at any time over the course of the disease, and usually occur in patients who have persistent and severe disease, with a considerable frequency of clinical complications (23%), including serositis, myopericarditis, lung involvement, abdominal pain, neurologic involvement, and reactive hemophagocytic syndrome. The most representative and frequent lesion among the nonclassical skin rashes is the development of persistent pruritic papules and/or plaques. Interestingly, these lesions show a distinctive histological pattern. Other, less frequently observed lesions include urticaria and urticaria-like eruptions, generalized or widespread non-pruritic persistent erythema, vesiculopustular eruptions, a widespread peau d’orange appearance of the skin, and edema of the eyelids mimicking dermatomyositis without any accompanying skin lesion. The great majority of these patients required medium or high doses of glucocorticoids (including intravenous methylprednisolone pulse therapy in some cases) and, in nearly 40%, a more potent or maintenance immunotherapy

  9. Transitional type of Castleman's disease manifested as the POEMS syndrome

    Directory of Open Access Journals (Sweden)

    Tomić Ilija

    2004-01-01

    Full Text Available Background. Castleman’s disease is an atypical lymphoproliferative disorder characterized by angiofollicular hyperplasia of lymph nodes. Histologically it can be classified into a hyaline-vascular type, plasma-cell type, and transitional (mixed-cell type, while clinically localized type has been classified as unicentric, or generalized (multicentric form of the disease. Case report. This paper presents a 21 years old male patient with multicentric Castleman’s disease, a transitional (mixed-cell type. The disease was manifested by fever, generalized enlargement of peripherial lymph nodes, breast glands enlargement, hyperemia of the face, and weakness of the lower extremities. We found mediastinal lymphadenopathy, pleural and pericardial effusions, sensorimotor peripherial neuropathy and polyclonal hypergammaglobulinemia. The simultaneous presence of these manifestations of the disease (sensomotor peripheral neuropathy, lymphadenopathy, effusions endocrinopathy, polyclonal gammaglobulinemia and skin changes is indentified as POEMS syndrome. The diagnosis of Castleman’s disease was based on the results of histopathologic analysis of mediastinal lymph node biopsies after thoracotomy. The patient was treated with corticosteroids (prednisone 80 mg daily for 2 weeks followed by 60 mg daily. A partial response was achieved after 4 months of treatment. Conclusion. A transitional type of multicentric Castleman’s disease may be present itself as POEMS syndrome. The effect of corticosteroid therapy in this form of the disease is unpredictable.

  10. [Cardiovascular manifestations in mixed connective tissue disease in adults].

    Science.gov (United States)

    Badui, E; Robles Saavedra, E; García Rubí, D; Mintz Spiro, G

    1984-01-01

    Twenty two patients with mixed connective tissue disease (MCTD) were studied with noninvasive cardiovascular techniques. Fifty percent of the cases presented cardiovascular abnormalities which in order of importance were: pericarditis with effusion (28%), myocarditis (14%) and one case; myocardial infarction. Complications of less importance were: supraventricular and ventricular premature beats, enlargement of left and right cardiac chambers, septal hypertrophy and type A paradoxical septal movement. We consider that patients with MCTD should have a routine cardiological evaluation.

  11. Cutaneous manifestations in patients suspected of chikungunya disease

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    Prashant Soma

    2009-01-01

    Full Text Available Context : An epidemic of chikungunya disease occurred in India during late 2005 through 2006 affecting nearly 1,400,000 people. Aim : To study the cutaneous manifestations in suspected cases of chikungunya disease. Settings and Design : Patients who attended our outpatient departments from January 2006 to September 2006 were prospectively included if they had symptoms of chikungunya disease according to the ′case definition′ of the National Institute of Communicable Diseases, Directorate General of Health Services, Government of India. The criteria were an acute illness characterized by the sudden onset of fever and several symptoms such as joint pain, headache, backache, photophobia, and eruption during an epidemic of chikungunya fever in the absence of confirmatory serological tests. Materials and Methods : A total of 115 patients (65 men and 50 women who satisfied the above criteria were enrolled for the study. Results : An erythematous maculopapular rash subsiding without any sequelae in 3-4 days was the most common cutaneous finding in our patients. Genital ulcers distributed predominantly over the scrotum and base of the penile shaft in men and labia majora in women were the second most common manifestation. Other manifestations included tenderness/edema of hands and feet, grouped hyperpigmented macules over the nose and cheeks, fixed drug eruptions, erythema nodosum, erythema multiformae, generalized urticarial eruptions, and flare up of pre-existing psoriasis and lichen planus. Conclusions : To conclude, a plethora of cutaneous manifestations were noted in suspected cases of chikungunya disease. Genital ulcers, to the best of our knowledge, have not been reported during the earlier epidemics but have been reported by others during the present one.

  12. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

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    Mohamed Osama Hegazi

    2012-01-01

    Full Text Available Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual manifestations of Graves' disease (GD, that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD.

  13. Significance of Cardiac Rehabilitation on Cardiovascular Diseases

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    Krutika Gajjar

    2012-06-01

    Full Text Available Considering the high mortality and morbidity rate associated with cardiovascular diseases, Cardiacrehabilitation (CR is regarded for prevention and management of cardiovascular diseases. CR servicesare generally provided in an outpatient as comprehensive, long-term programs involving medicalevaluation, prescribed exercise, cardiac risk factor modification, education and counseling. This includesnutritional therapies, weight loss program management of lipid abnormalities with diet and medication,blood pressure control, diabetes management and stress management. The exercise component of a totalapproach to rehabilitation helps to overcome the fears and anxieties that so many people experience aftera heart attack. Aerobic exercise training program improves cardiovascular fitness in both healthyindividual and cardiac patients. Cardiac rehabilitation prevents and treat cardiovascular disease, reducescardiac risk factors, improving patient’s exercise capacity and enhancing quality of life. Aerobicexercise with intensity of approximately 60 to 70% of the maximal heart rate for 30 to 60 minutes, 3 to 4times a week, for 4 to 6 weeks enhances exercise capacity.

  14. Cardiac arrhythmia in Wilson′s disease: An oversighted and overlooked entity!

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    Bhupender Kumar Bajaj

    2016-01-01

    Full Text Available Wilson's disease is a multisystem disorder which manifests with hepatic, neurological, musculoskeletal, hematological, renal, and cardiac symptoms. The hepatic and neurological manifestations often overshadow the other system involvement including cardiac symptoms and signs, which may prove fatal. We report a case of a young female who presented with progressive parkinsonian features and dystonia for around 4 months followed 2 months later by the complaint of episodes of light-headedness. She was diagnosed to have Wilson's disease based on the presence of Kayser–Fleischer ring and laboratory parameters of copper metabolism. Electrocardiography of the patient incidentally revealed 2nd degree Mobitz type-1 atrioventricular block explaining her episodes of light-headedness. She was started on penicillamine and trihexyphenidyl. The heart block improved spontaneously. Cardiac autonomic function tests including blood pressure response to standing and heart rate response to standing were observed to be normal. We review the literature on cardiac manifestations of Wilson's disease and emphasize that patients with Wilson's disease should be assessed for cardiac arrhythmia and cardiac dysfunction as these may have therapeutic and prognostic implications.

  15. Pulmonary necrobiotic nodules: a rare extraintestinal manifestation of Crohn's disease

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    G. Warwick

    2009-03-01

    Full Text Available The present article reports the case of a 22-yr-old female with new onset Crohn's colitis, anterior uveitis and multiple pulmonary nodules which, on histological examination, were necrobiotic nodules. This is a rare but recognised pulmonary extraintestinal manifestation of Crohn's disease and only the fourth reported case. The present case report is followed by a brief review of the relevant literature.

  16. Syphilitic hepatitis: An uncommon manifestation of a common disease

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    Sukriti Baveja

    2014-01-01

    Full Text Available Hepatitis being first manifestation of secondary syphilis is rare. Here in we report a case of 39 years old male who was being treated for hepatitis and presented to us subsequently with itchy maculopapular rash. Venereal disease research laboratory (VDRL titre was 1:16. Treponema pallidum hemagglutination assay (TPHA was positive. He was treated with intramuscular Benzathine Penicillin. His hepatitis improved rapidly.

  17. [Preeclampsia--two manifestations of the same disease].

    Science.gov (United States)

    Kornacki, Jakub; Skrzypczak, Jana

    2008-06-01

    Preeclampsia, due to its complicated and unexplained pathophysiology, remains one of the most difficult subjects in modern maternal-fetal medicine. Despite of the fact that diagnostic criteria of preeclampsia are clear and homogenous, the clinical manifestation of the disease, the prognosis and the frequency of maternal and fetal complications differ considerably among the cases. The aim of the review was to emphasize the heterogenous character of preeclampsia which may be manifested in two different clinical forms--a maternal and placental one. The maternal preeclampsia occurs mostly in multiparous patients with known risk factors of preeclampsia such as: 1) insulin resistance, 2) diabetes mellitus, 3) dyslipidemia, 4) obesisty, and 5) chronic hypertension. The placental form of the disease is more common among nulliparous women without prior risk factors of preeclampsia. The main clinical differences between the two forms are: 1) an earlier onset of placental preeclampsia in most cases, and 2) a more frequent presence of placental insufficiency in placental preeclampsia. The following article focuses on both forms of preeclampsia in the aspect of different clinical manifestations, different prognosis, as well as different management of the disease.

  18. Isolated Fetal Ascite Associated with Cardiac Diseases

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    Vehbi Doğan

    2014-12-01

    Full Text Available Fetal ascite is defined as fluid accumulation in peritoneal cavity. It can be seen as isolated disease or an early sign of hydrops fetalis. Once fetal ascite is detected, a careful examination for hydops fetalis and possible underlying disease is necessary, since its prognosis and treatment depends mostly on the cause. Non-immunologic fetal ascite is an uncommon problem occurring for many reasons, such as urinary tract obstruction, congenital infections, genetic and metabolic diseases, gastrointestinal diseases and cardiovascular diseases. Here in this report we present two isolated fetal ascite that occurred secondary to cardiac diseases.

  19. Analysis of clinical manifestations of symptomatic acquired jejunoileal diverticular disease

    Institute of Scientific and Technical Information of China (English)

    Chia-Yuan Liu; Wen-Hsiung Chang; Shee-Chan Lin; Cheng-Hsin Chu; Tsang-En Wang; Shou-Chuan Shih

    2005-01-01

    AIM: To analyze systematically our experience over 22 years with symptomatic acquired diverticular disease of the jejunum and ileum, exploring the clinical manifestations and diagnosis of this rare but life-threatening disease.METHODS: The medical records of patients with surgically confirmed symptomatic jejunoileal diverticular disease were retrospectively reviewed. Data collected included demographic data, laboratory results, clinical course (acute or chronic), preoperative diagnosis, and operative findings. Inclusion criteria were as follows: (1) surgical confirmation of jejunoileal diverticular disease and (2)exclusion of congenital diverticula (e.g. Meckel's diverticulum).RESULTS: From January 1982 to July 2004, 28 patients with a total of 29 operations met the study criteria. The male:female ratio was 14:14, and the mean age was 62.6±3.5 years. The most common manifestation was abdominal pain. In nearly half of the patients, the symptoms were chronic. Two patients died after surgery. Only four cases were correctly diagnosed prior to surgery, three by small bowel series.CONCLUSION: Symptomatic acquired small bowel diverticular disease is difficult to diagnose. It should be considered in older patients with unexplained chronic abdominal symptoms. A small bowel series may be helpful in diagnosing this potentially life-threatening disease.

  20. Oral Crohn′s disease without intestinal manifestations

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    Gingisetty Harikishan

    2012-01-01

    Full Text Available Crohn′s disease is a granulomatous inflammatory bowel disease and was described in 1932 as a chronic granulomatous disorder of the terminal ileum and is now considered a distinct member of the inflammatory bowel disease family. It may affect any part of the gastrointestinal tract. Oral Crohn′s disease has been reported frequently in the last three decades with or without intestinal manifestations. In the latter case, it is considered as one of the orofacial granulomatosis. There has been much doubt whether intestinal manifestations of Crohn′s disease will eventually develop in the orofacial granulomatosis. We present a female patient aged 22 years with prominent clinical findings such as persistent swelling of lower and upper lip with fissuring and angular cheilitis, granulomatous gingival enlargement, and cobblestone or corrugated appearance of labial mucosa, which are suggestive of Crohn′s disease, but with no evidence of other gastrointestinal involvement. The patient underwent surgical treatment with external gingivectomy procedure. A 6-month follow-up showed minimal recurrence.

  1. Pyoderma Gangrenosum-A New Manifestation of Wilson Disease?

    Science.gov (United States)

    Freg, George Naiem Ibrahiem; Shah, Venisha; Nagral, Aabha; Jhaveri, Ajay

    2016-03-01

    Seventeen year old girl, a known case of Wilson disease presented to us with a non-healing skin ulcer followed by appearance of jaundice, ascites and progressive fatigue of 1 month duration. She was diagnosed to have Wilson disease 5 years back and had been well controlled on d-penicillamine. On enquiry, she was found to be noncompliant with her medication in the preceding 6 months. On examination, she had severe pallor, icterus with moderate ascites and oedema feet. Investigations revealed severe haemolytic anemia and deranged liver function. The lesion was diagnosed to be pyoderma gangrenosum on skin biopsy. The appearance of a cutaneous lesion followed by deterioration in the liver disease and hemolysis suggested uncontrolled Wilson disease as the triggering factor. Chelation therapy improved her haemoglobin and liver function as well as led to healing of the ulcer. We describe pyoderma gangrenosum as a new manifestation of Wilson disease.

  2. Manifestation of severe coronary heart disease after anabolic drug abuse.

    Science.gov (United States)

    Mewis, C; Spyridopoulos, I; Kühlkamp, V; Seipel, L

    1996-02-01

    Anabolic steroids are frequently abused, thus increasing the risk of cardiovascular disease, despite the known unfavorable influence on lipid profiles. We report on a young bodybuilder who presented with ventricular tachycardia as the first manifestation of severe underlying coronary heart disease. Coronary angiogram revealed severe stenotic lesions in the right coronary artery and the left descending coronary artery, and hypokinetic regions corresponded to posterolateral and anterior myocardial infarctions. This young patient had a history without any coronary risk factors, but with a 2-year abuse of the anabolic steroid stanazolol. No report published so far has shown possible atherogenic consequences of long-term abuse of stanazolol.

  3. Neonatal erythroderma as a first manifestation of Menkes disease.

    Science.gov (United States)

    Galve, Javier; Vicente, Asunción; González-Enseñat, María Antonia; Pérez-Dueñas, Belén; Cusí, Victoria; Møller, Lisbeth Birk; Julià, Marc; Domínguez, Anna; Ferrando, Juan

    2012-07-01

    Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease with neonatal erythroderma. Genetic study revealed a deletion in exons 8 to 12 in the ATP7A gene. This study could allow pediatricians and pediatric dermatologists to diagnose the disorder as early as possible to establish prompt treatment with parenteral copper-histidine supplementation to improve prognosis.

  4. Skeletal Manifestations in Gaucher Disease: A Case Report

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    Altınay Göksel Karatepe

    2005-09-01

    Full Text Available Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3 or not (type 1. In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed.

  5. Texas Occurrence of Lyme Disease and Its Neurological Manifestations.

    Science.gov (United States)

    Dandashi, Jad A; Nizamutdinov, Damir; Dayawansa, Samantha; Fonkem, Ekokobe; Huang, Jason H

    2016-06-01

    Today, Lyme disease is the most commonly reported tick-borne disease in the United States and Europe. The culprits behind Lyme disease are the Borrelia species of bacteria. In the USA, Borrelia burgdorferi causes the majority of cases, while in Europe and Asia Borrelia afzelii and Borrelia garinii carry the greatest burden of disease. The clinical manifestations of Lyme disease have been identified as early localized, early disseminated, and late chronic. The neurological effects of Lyme disease include both peripheral and central nervous systems involvement, including focal nerve abnormalities, cranial neuropathies, painful radiculoneuritis, meningitis, and/or toxic metabolic encephalopathy, known as Lyme encephalopathy. Given the geographic predominance of Lyme disease in the Northeast and Midwest of the USA, no major studies have been conducted regarding Southern states. Between 2005 and 2014, the Center for Disease Control has reported 582 confirmed cases of Lyme disease in Texas. Because of the potential for increased incidence and prevalence in Texas, it has become essential for research and clinical efforts to be diverted to the region. The Texas A&M College of Veterinary Medicine and Biomedical Sciences Lyme Lab has been investigating the ecology of Lyme disease in Texas and developing a pan-specific serological test for Lyme diagnosis. This report aimed to exposure materials and raise awareness of Lyme disease to healthcare providers.

  6. Epigenetic mechanisms in cardiac development and disease

    Institute of Scientific and Technical Information of China (English)

    Marcus Vallaster; Caroline Dacwag Vallaster; Sean M. Wu

    2012-01-01

    During mammalian development,cardiac specification and ultimately lineage commitment to a specific cardiac cell type is accomplished by the action of specific transcription factors (TFs) and their meticulous control on an epigenetic level.In this review,we detail how cardiacspecific TFs function in concert with nucleosome remodeling and histone-modifying enzymes to regulate a diverse network of genes required for processes such as cell growth and proliferation,or epithelial to mesenchymal transition (EMT),for instance.We provide examples of how several cardiac TFs,such as Nkx2.5,WHSC1,Tbx5,and Tbx1,which are associated with developmental and congenital heart defects,are required for the recruitment of histone modifiers,such as Jarid2,p300,and Ash21,and components of ATP-dependent remodeling enzymes like Brg1,Baf60c,and Baf180.Binding of these TFs to their respective sites at cardiac genes coincides with a distinct pattern of histone marks,indicating that the precise regulation of cardiac gene networks is orchestrated by interactions between TFs and epigenetic modifiers.Furthermore,we speculate that an epigenetic signature,comprised of TF occupancy,histone modifications,and overall chromatin organization,is an underlying mechanism that governs cardiac morphogenesis and disease.

  7. Neurologic and psychiatric manifestations of celiac disease and gluten sensitivity.

    Science.gov (United States)

    Jackson, Jessica R; Eaton, William W; Cascella, Nicola G; Fasano, Alessio; Kelly, Deanna L

    2012-03-01

    Celiac Disease (CD) is an immune-mediated disease dependent on gluten (a protein present in wheat, rye or barley) that occurs in about 1% of the population and is generally characterized by gastrointestinal complaints. More recently the understanding and knowledge of gluten sensitivity (GS), has emerged as an illness distinct from celiac disease with an estimated prevalence 6 times that of CD. Gluten sensitive people do not have villous atrophy or antibodies that are present in celiac disease, but rather they can test positive for antibodies to gliadin. Both CD and GS may present with a variety of neurologic and psychiatric co-morbidities, however, extraintestinal symptoms may be the prime presentation in those with GS. However, gluten sensitivity remains undertreated and underrecognized as a contributing factor to psychiatric and neurologic manifestations. This review focuses on neurologic and psychiatric manifestations implicated with gluten sensitivity, reviews the emergence of gluten sensitivity distinct from celiac disease, and summarizes the potential mechanisms related to this immune reaction.

  8. Dermatoglyphic’s in Congenital Cardiac Disease

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    Singh Brijendra

    2016-03-01

    Full Text Available Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD, 60 cases of Atrial Septal Defects (ASD, 9 cases of Coarctation of Aorta (COA & 9 cases of Tetralogy of Fallot’s (TOF. Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8% with decrease in loop pattern (36.2% as compared to those of controls and the difference was highly significant (P<0.001. The difference in the mean total finger ridge count (TFRC of the controls and of the cases of Congenital Cardiac Diseases (CCD was found to be highly significant (P<0.001, while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  9. Cardiac Disease Associated with Human Immunodeficiency Virus Infection.

    Science.gov (United States)

    Bloomfield, Gerald S; Leung, Claudia

    2017-02-01

    Over the last 2 decades human immunodeficiency virus (HIV) infection has become a chronic disease requiring long-term management. Aging, antiretroviral therapy, chronic inflammation, and several other factors contribute to the increased risk of cardiovascular disease in patients infected with HIV. In low-income and middle-income countries where antiretroviral therapy access is limited, cardiac disease is most commonly related to opportunistic infections and end-stage manifestations of HIV/acquired immunodeficiency syndrome, including HIV-associated cardiomyopathy, pericarditis, and pulmonary arterial hypertension. Cardiovascular screening, prevention, and risk factor management are important factors in the management of patients infected with HIV worldwide. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Ocular manifestations in Hansen’s disease- a clinical study

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    Christina Samuel, Sundararajan D

    2014-11-01

    Full Text Available Leprosy or Hansen’s disease is a chronic mildly contagious granulomatous disease of tropical and subtropical regions caused by the rod shaped bacillus, Mycobacterium leprae. It affects the skin, peripheral nerves in the hands and feet, mucous membrane of nose, throat and eyes. When left untreated, it is capable of producing various deformities and disfigurements. Aim: To study the ocular involvement in patients with Leprosy under the parameters of age group, sex type and duration of leprosy. To study the different ocular manifestations and identify the potentially sight threatening lesions and provide early management. Methods: This was a prospective study which included 50 cases diagnosed with Hansen’s disease. Detailed history and thorough clinical examination was done. Potentially sight threatening lesions were managed conservatively or surgically. Results: Out of 50 cases of Leprosy, 58% had ocular involvement and majority were in the age group 21-40years. Ocular involvement was predominantly seen in Lepromatous type with 35% having ocular lesions. The most common ocular manifestation observed was superciliary madarosis (48%. Potentially sight threatening lesions accounted for 72.4% of which lagophthalmos was common. No cases of blindness seen. Conclusion: Visual impairment is preventable in Leprosy if detected early. The risk of ocular complications increases with the duration of the disease, despite being treated with systemic anti-leprosy drugs.

  11. Dermatitis herpetiformis: a cutaneous manifestation of coeliac disease.

    Science.gov (United States)

    Collin, Pekka; Salmi, Teea T; Hervonen, Kaisa; Kaukinen, Katri; Reunala, Timo

    2017-02-01

    Dermatitis herpetiformis (DH) is an itchy blistering skin disease with predilection sites on elbows, knees, and buttocks. Diagnosis is confirmed by showing granular immunoglobulin A deposits in perilesional skin. DH is one manifestation of coeliac disease; the skin symptoms heal with gluten free diet (GFD) and relapse on gluten challenge. Of the first-degree relatives, 5% may be affected by either condition. Tissue transglutaminase (TG2) is the autoantigen in coeliac disease and epidermal transglutaminase (TG3) in DH. Both diseases conditions exhibit TG2-specific autoantibodies in serum and small bowel mucosa; patients with DH have IgA-TG3 in the skin. There are some divergencies between these two phenotypes. One-fourth of DH patients do not have small bowel mucosal villous atrophy, but virtually all have coeliac-type inflammatory changes. The skin symptoms respond slowly to GFD. The incidence of coeliac disease is increasing, whereas the opposite is true for DH. A female predominance is evident in coeliac disease, while DH may be more common in males. Coeliac disease carries the risk of small intestinal T-cell lymphoma; in DH B-cell lymphomas at any site may prevail. Adult coeliac disease carries a slightly increased elevated mortality risk, whereas in DH, the relative mortality rate is significantly decreased. Key messages Dermatitis herpetiformis is a cutaneous manifestation of coeliac disease; both conditions are genetically determined and gluten-dependent. Gastrointestinal symptoms and the degree of villous atrophy are less obvious in dermatitis herpetiformis than in coeliac disease. Both show tissue transglutaminase (TG2) specific autoantibodies in serum and small bowel mucosa. In addition, TG3-targeted IgA antibodies are found in the skin of DH patients Both conditions carry an increased elevated risk of lymphoma, in coeliac disease small intestinal T-cell lymphoma, in dermatitis herpetiformis mainly B-cell lymphoma at various sites. Coeliac disease is

  12. SIRT3 in cardiac physiology and disease

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    Christoph Koentges

    2016-10-01

    Full Text Available Functional defects in mitochondrial biology causally contribute to various human diseases, including cardiovascular disease. Impairment in oxidative phosphorylation, mitochondrial oxidative stress and increased opening of the mitochondrial permeability transition pore add to the underlying mechanisms of heart failure or myocardial ischemia reperfusion (IR injury. Recent evidence demonstrated that the mitochondrial NAD+-dependent deacetylase sirtuin 3 (SIRT3 may regulate these mitochondrial functions by reversible protein lysine deacetylation. Loss of function studies demonstrated a role of impaired SIRT3 activity in the pathogenesis of myocardial IR injury as well as in the development of cardiac hypertrophy and the transition into heart failure. Gain of function studies and treatment approaches increasing mitochondrial NAD+ availability that ameliorate these cardiac pathologies have led to the proposal that activation of SIRT3 may represent a promising therapeutic strategy to improve mitochondrial derangements in various cardiac pathologies. In the current review, we will present and discuss the available literature on the role of SIRT3 in cardiac physiology and disease.

  13. The most common otorhinolaryngologic manifestations of granulomatous diseases

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    Heshiki, Rosana Emiko

    2008-09-01

    Full Text Available Introduction: Granulomatous diseases result from immunopathologic processes in which there is a failure in the fagocitosis of intracellular organisms. They can cause oral, nasal and pharyngeal mucosa ulcers, vocal cords lesions, otorrhoea and oropharyngeal vegetant lesions. Objective: Describing the most frequent otorhinolaryngologic manifestations in common granulomatous diseases: hanseniasis, paracoccidioidomycosis, leishmaniasis. Method: A retrospective study has been carried out from records of patients diagnosed with the abovementioned diseases between January 1, 2005 and October 31, 2007 in an infectology ambulatory of a tertiary hospital. Results: 142 patients were evaluated; 93 with leishmaniasis, 39 with paracoccidioidomycosis and 10 with hanseniasis. In 93 cases of leishmaniasis, 16 (17.2% had mucosal affection, and the most common signs were septum perforation and nasal mucosal ulcers, both with 8 cases. In paracoccidioidomycosis, oropharyngeal ulcer was the most frequent, with 15 cases (38,4%. Conclusion: Head and neck signs and symptoms are common in patients with leishmaniasis and paracoccidioidomycosis. Nasal manifestations prevail in leishmaniasis and oropharyngeal ones in paracoccidioidomycosis.

  14. Genetic and environmental factors in cardiac sodium channel disease

    NARCIS (Netherlands)

    Mizusawa, Y.

    2016-01-01

    Cardiac sodium channelopathies, such as long QT syndrome type3 (LQT3), Brugada syndrome (BrS) and cardiac conduction disease (CCD), are heritable diseases associated with mutations in the SCN5A gene and sudden cardiac death. They were classically thought to be a monogenic disease. However, while LQT

  15. Genetic and environmental factors in cardiac sodium channel disease

    NARCIS (Netherlands)

    Mizusawa, Y.

    2016-01-01

    Cardiac sodium channelopathies, such as long QT syndrome type3 (LQT3), Brugada syndrome (BrS) and cardiac conduction disease (CCD), are heritable diseases associated with mutations in the SCN5A gene and sudden cardiac death. They were classically thought to be a monogenic disease. However, while LQT

  16. Pulmonary manifestations in collagen vascular diseases; Pulmonale Manifestationen bei Kollagenosen

    Energy Technology Data Exchange (ETDEWEB)

    Vogel, M.N.A. [Thoraxklinik, Universitaetsklinikum Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie mit Nuklearmedizin, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany); Kreuter, M. [Thoraxklinik, Universitaetsklinikum Heidelberg, Zentrum fuer interstitielle und seltene Lungenerkrankungen, Pneumologie und Beatmungsmedizin, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany); Kauczor, H.U. [Radiologische Klinik, Universitaetsklinikum Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany); Heussel, C.P. [Thoraxklinik, Universitaetsklinikum Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie mit Nuklearmedizin, Heidelberg (Germany); Radiologische Klinik, Universitaetsklinikum Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany)

    2016-10-15

    Pulmonary complications are frequent in patients with collagen vascular diseases (CVD). Frequent causes are a direct manifestation of the underlying disease, side effects of specific medications and lung infections. The standard radiological procedure for the work-up of pulmonary pathologies in patients with CVD is multidetector computed tomography (MDCT) with thin-slice high-resolution reconstruction. The accuracy of thin-slice CT for the identification of particular disease patterns is very high. The pattern of usual interstitial pneumonia (UIP) representing the direct pulmonary manifestation of rheumatoid arthritis (RA) can be identified with a sensitivity of 45 % and a specificity of 96 %. Both direct pulmonary manifestations, drug-induced toxicity and certain infections can have a similar appearance in thin-slice MDCT in various forms of CVD. Knowledge of the patterns and causes contributes to the diagnostic certainty. At first diagnosis of a CVD and associated pulmonary symptoms thin-slice MDCT is recommended. Clinical, lung function and imaging follow-up examinations should be performed every 6-12 months depending on the results of the MDCT. In every case the individual CT morphological patterns of pulmonary involvement must be identified. The combination of information on the anamnesis, clinical and imaging results is a prerequisite for an appropriate disease management. (orig.) [German] Pulmonale Komplikationen sind bei Patienten mit Kollagenosen keine Seltenheit. Haeufig sind eine direkte Manifestation der Grunderkrankung, eine Nebenwirkung der medikamentoesen Therapie oder eine Lungeninfektion die Ursachen. Das radiologische Standardverfahren zur Klaerung pulmonaler Pathologien bei Patienten mit Kollagenosen ist die Multidetektorcomputertomographie mit duennschichtigen Rekonstruktionen (Duennschicht-MDCT). Die Treffsicherheit der Duennschicht-MDCT ist fuer die Identifikation eines Erkrankungsmusters sehr hoch. So kann beispielsweise das Muster einer

  17. Differential diagnostic algorithm for diseases manifested with heart murmurs syndrome.

    Science.gov (United States)

    Naumov, Leonid B

    2009-08-01

    Diagnostic interpretation at auscultation of heart murmurs is accompanied by frequent errors. It creates serious clinical, pedagogical, organizational and social problems. The standard nosological principle of a clinical information description from the diagnosis (a disease name) to the description of symptoms/signs contradicts to real clinical practice from revealing of symptoms through differential diagnostics to a diagnosis establishment. The differential diagnostic algorithm or diagnostic algorithm developed by the author, is based on the opposite syndromic principle of thinking - from the signs to the diagnosis. It completely corresponds to the practical purposes of reliable diagnostics of 35 illnesses, manifested by heart murmurs at a heart auscultation.

  18. [The clinical and serological manifestations of Lyme disease in Russia].

    Science.gov (United States)

    Anan'eva, L P; Skripnikova, I A; Barskova, V G; Steere, A C

    1995-01-01

    Out of 86 Lyme's disease patients with a history of migrating erythema nervous system, cardiovascular and articular involvement was observed in 27, 6 and 43% of cases. Acrodermatitis was diagnosed in 2% of patients. Affection of locomotor system manifested with acute arthritis episodes or pains in major joints. 11 patients of 12 examined at arthritis onset showed elevated titer of anti-Borrelia IgG antibodies. Serologically, of 80 patients with arthritis or arthralgia without prior migrating erythema 6 demonstrated antibodies to 5 and more Borrelia polypeptides.

  19. Multisystem Radiologic Manifestations of Erdheim-Chester Disease

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    Umairullah Lodhi

    2016-01-01

    Full Text Available Erdheim-Chester Disease is a rare form of multiorgan non-Langerhans’ cell histiocytosis that affects individuals between the ages of 50 and 70 with an equal distribution among males and females. It is associated with significant morbidity and mortality that is mostly due to infiltration of critical organs. Some of the sites that Erdheim-Chester Disease affects include the skeletal system, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum, and skin. The most common presenting symptom of Erdheim-Chester Disease is bone pain although a large majority of patients are diagnosed incidentally during a workup for a different disease process. Diagnosing Erdheim-Chester Disease is challenging due its rarity and mimicry to other infiltrative processes. Therefore, a multimodality diagnostic approach is employed with imaging being at the forefront. As of date, a comprehensive radiologic review of the manifestations of Erdheim-Chester Disease has rarely been reported. Here we present radiologic findings of an individual suffering from Erdheim-Chester Disease.

  20. [Kikuchi's disease associated with cutaneous manifestations evoking Well's syndrome].

    Science.gov (United States)

    Viseux, V; Schoenlaub, P; Marciniak, S; Staroz, F; Plantin, P

    2003-12-01

    Wells' syndrome is a dermatological disease with polymorphous lesions characterized histologically by an eosinophilic infiltrate of the dermis with edema and flame figures. Kikuchi's disease is a benign cause of lymphadenitis corresponding histologically to a necrotizing histiocyting adenitis without neutrophils. We describe the association of a Kikuchi's disease and cutaneous lesions similar to Wells'syndrome. A 62-year-old man presented over 3 years several simultaneous episodes of left axillary lymphadenitis and of cutaneous lesions compatible with a diagnosis of Wells'syndrome. No precipitating event or disease described with the Wells'syndrome was established. Concerning the axillary nodes, a cancer, a lymphoproliferative syndrome, a systemic lupus and several infectious diseases were excluded. Standard histology and immunochemistry of a lymph node showed signs of Kikuchi's disease. Bilateral anterior uveitis was incidentally detected. The three conditions improved with oral corticosteroids (1 mg/kg/d). The patient had Kikuchi's disease and a recurrent dermatosis for which the clinical and histological aspects, the evolution and the absence of arguments for another cause, suggest a Wells'syndrome. Cutaneous manifestations occur in 16 to 40 p. 100 of cases of Kikuchi's disease and often have characteristic histologic features not corresponding to Wells'syndrome. The association of the 2 diseases may be then incidental, despite 4 simultaneous episodes. Two viral agents, VIH and VZV have been associated with the two diseases but do not seem to be the cause in our patient. Concerning the anterior uveitis, a single case of uveitis has been described for each condition.

  1. Cardiac imaging in valvular heart disease.

    Science.gov (United States)

    Choo, W S; Steeds, R P

    2011-12-01

    The aim of this article is to provide a perspective on the relative importance and contribution of different imaging modalities in patients with valvular heart disease. Valvular heart disease is increasing in prevalence across Europe, at a time when the clinical ability of physicians to diagnose and assess severity is declining. Increasing reliance is placed on echocardiography, which is the mainstay of cardiac imaging in valvular heart disease. This article outlines the techniques used in this context and their limitations, identifying areas in which dynamic imaging with cardiovascular magnetic resonance and multislice CT are expanding.

  2. Oral Manifestations of Inflammatory Bowel Diseases: Two Case Reports

    Science.gov (United States)

    Pereira, Manoela Seadi; Munerato, Maria Cristina

    2016-01-01

    Inflammatory bowel diseases (IBD) are known as chronic inflammatory disorders of the digestive tract, represented mainly by Crohn’s disease (CD) and ulcerative colitis (UC). Among the main oral manifestations of IBD are cobblestoning of the oral mucosa, labial swellings with vertical fissures, pyostomatitis vegetans, angular cheilitis, perioral erythema, and glossitis. In this sense, understanding these nosological entities by dentists would help reach early and differential diagnosis. Thus, two case reports are presented and discussed based on theoretical references obtained by a literature review. The first case report refers to an adult patient whose IBD diagnosis was established after stomatological assessment. The second case was a patient with CD diagnosed in childhood with characteristic oral lesions. PMID:26864508

  3. [Cardiac tamponade as first manifestation in Mediterranean fever with autosomal dominant form].

    Science.gov (United States)

    Sánchez Ferrer, F; Martinez Villar, M; Fernández Bernal, A; Martín de Lara, I; Paya Elorza, I

    2015-01-01

    Familial Mediterranean fever (FMF) is a hereditary disease characterized by brief, recurring and self-limited episodes of fever and pain with inflammation, of one or several serous (peritoneum, pleura, pericardium, synovial or vaginal tunic of the testicle). Amyloidosis is its more important complication and the principal reason of death in the cases in which it appears. Diagnosis is based on the clinic and is confirmed by genetic tests. The treatment with Colchicine (0,02-0,03 mg/kg/day) prevents the recurrence of FMF attacks and the development of secondary (AA) amyloidosis. We report a case of a 13-year-old child in which FMF was diagnosed after several coincidental episodes with fever, pericarditis and cardiac tamponade. The genetic confirmation showed an autosomal dominant inheritance that is less frecuent than the recesive form, in this disease. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  4. Endocrine-Manifestations of Cirrhosis and Liver Disease

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    M Khalili

    2014-04-01

    cirrhosis. Here it reviews some endocrine-manifestations related to cirrhosis and the liver disease.        

  5. Electrocardiography as an early cardiac screening test in children with mitochondrial disease

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    Ran Baik

    2010-05-01

    Full Text Available Purpose : To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. Methods : We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG on all patients. Results : ECG abnormalities were observed in 30 patients (52.6%. Prolongation of the QTc interval (&gt;440 ms was seen in 19 patients (33.3%, widening of the corrected QRS interval in 15 (26.3%, and bundle branch block in four (7.0%. Atrioventricular block, premature atrial contraction and premature ventricular contraction were seen in two patients each (3.5% and Wolff-Parkinson-White syndrome in one patient (1.8%. Conclusion : Given this finding, we recommend active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.

  6. CHOROIDAL THICKNESS IN MULTISYSTEMIC AUTOIMMUNE DISEASES WITHOUT OPHTHALMOLOGIC MANIFESTATIONS.

    Science.gov (United States)

    Ferreira, Carla S; Beato, João; Falcão, Manuel S; Brandão, Elisete; Falcão-Reis, Fernando; Carneiro, Ângela M

    2017-03-01

    To evaluate choroidal morphology and thickness at the posterior pole of individuals affected by multisystemic autoimmune diseases and without known ophthalmologic manifestations. Retrospective cross-sectional study including 75 patients with autoimmune diseases (divided according to their specific disease) and 80 healthy controls. A spectral-domain optical coherence tomography using enhanced depth imaging was performed and choroidal thickness was measured in the center of fovea and at 500 μm intervals along a horizontal section. Lupus patients presented a thicker subfoveal choroid than controls (408.624 vs. 356.536, P choroid than controls (297.867 vs. 356.536 subfoveally, P = 0.004; P = 0.005-0.019 in other measurements). Results were adjusted for the covariates age (P = 0.007), spherical equivalent (P choroidal thickness. No morphologic abnormalities were found. The choroid may be subclinically involved in autoimmune diseases. However, the choroidal response seems to differ depending on the autoimmune disease. Infiltrative mechanisms specific for lupus may justify the thickened choroid found in these patients.

  7. Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease

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    E.A. Romão

    2006-04-01

    Full Text Available The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis, and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 ± 14.9 years, and mean serum creatinine at referral was 2.4 ± 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3%, lumbar pain (55.4%, an abdominal mass (47.8%, and urinary infection (35.8%. Loss of renal function occurred in 27 patients (mean age: 45.4 ± 9.5 years. The liver was the second organ most frequently affected (39.1%. Stroke occurred in 7.6% of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14%.

  8. Clinical Features and Extraintestinal Manifestations of Crohn Disease in Children

    Science.gov (United States)

    Lee, Young Ah; Chun, Peter; Hwang, Eun Ha; Mun, Sang Wook; Lee, Yeoun Joo

    2016-01-01

    Purpose The aim of this study was to investigate the clinical features and extraintestinal manifestations (EIMs) of Crohn disease (CD) in Korean pediatric patients. Methods The medical records of 73 children diagnosed with CD were retrospectively reviewed. Data regarding baseline demographic and clinical characteristics, including CD phenotype at diagnosis based on the Montreal classification, and clinical features and course of EIMs were investigated. Results Fifty-two (71.2%) of the patients were males. The mean age of the patients was 12.5 years. The mean follow-up period was 3.4 years. The disease location was ileal in 3 (4.1%) of the patients, colonic in 13 (17.8%), ileocolonic in 56 (76.7%). The clinical behavior was inflammatory in 62 (84.9%) of the patients, stricturing in 8 (11.0%), and penetrating in 3 (4.1%). Perianal abscesses or fistulas were found in 37 (50.7%) of the patients. EIMs observed during the study period were anal skin tag in 25 patients (34.2%), hypertransaminasemia in 20 (27.4%), peripheral arthritis in 2 (2.7%), erythema nodosum in 2 (2.7%), vulvitis in 1 (1.4%), uveitis in 1 (1.4%), and pulmonary thromboembolism in 1 (1.4%). Conclusion Perianal diseases and manifestations were present in more than half of Korean pediatric CD patients at diagnosis. Inspection of the anus should be mandatory in Korean children with suspicious CD, as perianal fistulas, abscesses, and anal skin tags may be the first clue to the diagnosis of CD. PMID:28090468

  9. Cardiac autonomic testing and treating heart disease. 'A clinical perspective'

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    Nicholas L. DePace

    2014-12-01

    Full Text Available Background Coronary heart disease (CHD is a major health concern, affecting nearly half the middle-age population and responsible for nearly one-third of all deaths. Clinicians have several major responsibilities beyond diagnosing CHD, such as risk stratification of patients for major adverse cardiac events (MACE and treating risks, as well as the patient. This second of a two-part review series discusses treating risk factors, including autonomic dysfunction, and expected outcomes. Methods Therapies for treating cardiac mortality risks including cardiovascular autonomic neuropathy (CAN, are discussed. Results While risk factors effectively target high-risk patients, a large number of individuals who will develop complications from heart disease are not identified by current scoring systems. Many patients with heart conditions, who appear to be well-managed by traditional therapies, experience MACE. Parasympathetic and Sympathetic (P&S function testing provides more information and has the potential to further aid doctors in individualizing and titrating therapy to minimize risk. Advanced autonomic dysfunction (AAD and its more severe form cardiovascular autonomic neuropathy have been strongly associated with an elevated risk of cardiac mortality and are diagnosable through autonomic testing. This additional information includes patient-specific physiologic measures, such as sympathovagal balance (SB. Studies have shown that establishing and maintaining proper SB minimizes morbidity and mortality risk. Conclusions P&S testing promotes primary prevention, treating subclinical disease states, as well as secondary prevention, thereby improving patient outcomes through (1 maintaining wellness, (2 preventing symptoms and disorder and (3 treating subclinical manifestations (autonomic dysfunction, as well as (4 disease and symptoms (autonomic neuropathy.

  10. Transverse Myelitis as Manifestation of Celiac Disease in a Toddler.

    Science.gov (United States)

    Krom, Hilde; Sprangers, Fleur; van den Berg, René; Benninga, Marc Alexander; Kindermann, Angelika

    2017-03-01

    We present a 17-month-old girl with rapidly progressive unwillingness to sit, stand, play, and walk. Furthermore, she lacked appetite, vomited, lost weight, and had an iron deficiency. Physical examination revealed a cachectic, irritable girl with a distended abdomen, dystrophic legs with paraparesis, disturbed sensibility, and areflexia. An MRI scan revealed abnormal high signal intensity on T2-weighted images in the cord on the thoracic level, without cerebral abnormalities, indicating transverse myelitis (TM). Laboratory investigations revealed elevated immunoglobulin A antibodies against gliadin (1980.0 kU/L; normal, 0-10.1 kU/L) and tissue transglutaminase (110.0 kU/L; normal, 0-10.1 kU/L). Gastroscopy revealed villous atrophy in the duodenal biopsies and lymphocytic gastritis according to Marsh IIIb, compatible with celiac disease (CD). After the start of a gluten free diet and methylprednisolone, she recovered completely. To our knowledge, this is the first pediatric case of TM as manifestation of CD. We suggest that all children with TM or other neurologic manifestations of unknown origin should be screened for CD.

  11. Coexistence of granulomatosis with polyangiitis (GPA) and Crohn's disease or multiorgan manifestation of the same disease?

    Science.gov (United States)

    Jóźwiak, Lucyna; Ławnicka, Izabela; Książek, Andrzej

    2016-01-01

    Granulomatosis with polyangiitis (GPA) is a systemic necrotizing vasculitis of unknown aetiology, often related to the antineutrophil cytoplasmic antibody (ANCA). GPA was previously named Wegener's granulomatosis (WG). The disease frequently has multisystemic presentation, targeting mainly the respiratory tract and kidneys, but gastrointestinal involvement is uncommon. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with many extraintestinal manifestations. Clinically, symptoms of WG and CD can mimic each other. In this paper a case of GPA manifested initially by severe multiorgan damage including colitis, regarded to be coexistent CD, is presented. The case illustrates the difficulties in establishing the diagnosis when symptoms of the diseases mimic each other.

  12. Acute Warfarin Toxicity as Initial Manifestation of Metastatic Liver Disease

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    Varalaxmi Bhavani Nannaka

    2016-01-01

    Full Text Available Near complete infiltration of the liver secondary to metastasis from the head and neck cancer is a rare occurrence. The prognosis of liver failure associated with malignant infiltration is extremely poor; the survival time of patients is extremely low. We present a case of acute warfarin toxicity as initial manifestation of metastatic liver disease. Our patient is a 64-year-old woman presenting with epigastric pain and discomfort, found to have unrecordable International Normalized Ratio. She rapidly deteriorated with acute respiratory failure requiring mechanical ventilation, profound shock requiring high dose vasopressor infusion, severe coagulopathy, worsening liver enzymes with worsening of lactic acidosis and severe metabolic abnormalities, and refractory to aggressive supportive care and died in less than 48 hours. Autopsy revealed that >90% of the liver was replaced by tumor masses.

  13. Pulmonary cystic disease associated with integumentary and renal manifestations.

    Science.gov (United States)

    Cayetano, Katherine S; Albertson, Timothy E; Chan, Andrew L

    2013-11-01

    A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces.

  14. Endocrine manifestations related to inherited metabolic diseases in adults

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    Vantyghem Marie-Christine

    2012-01-01

    Full Text Available Abstract Most inborn errors of metabolism (IEM are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.. IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects, and metal (hemochromatosis and storage disorders (cystinosis. Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes, whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure, congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last. This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

  15. Attention! Cardiac tamponade may be caused by underlying Castleman's disease.

    Science.gov (United States)

    Atay, Hilmi; Kelkitli, Engin; Okuyucu, Muhammed; Yildiz, Levent; Turgut, Mehmet

    2015-05-01

    Castleman's disease is a rarely observed lymphoproliferative disease. In the literature, various signs and symptoms of the disease have been reported; one of these is secondary cardiac tamponade. We describe the case of a 41-year-old man who developed cardiac tamponade during examination, and who was later diagnosed with Castleman's disease, based on his lymph node biopsies.

  16. Plasma Cell Type of Castleman's Disease Involving Renal Parenchyma and Sinus with Cardiac Tamponade: Case Report and Literature Review

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Un; Kim, Suk; Lee, Jun Woo; Lee, Nam Kyung; Jeon, Ung Bae; Ha, Hong Gu; Shin, Dong Hoon [Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan (Korea, Republic of)

    2012-09-15

    Castleman's disease is an uncommon disorder characterized by benign proliferation of the lymphoid tissue that occurs most commonly in the mediastinum. Although unusual locations and manifestations have been reported, involvement of the renal parenchyma and sinus, and moreover, manifestations as cardiac tamponade are extremely rare. Here, we present a rare case of Castleman's disease in the renal parenchyma and sinus that also accompanied cardiac tamponade.

  17. Is there an association between Fahr′s disease and cardiac conduction system disease?: A case report

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    Prashanth Panduranga

    2012-01-01

    Full Text Available Background: Fahr′s disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr′s disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various cardiac conduction system abnormalities and bilateral basal ganglia calcifica-tion suggestive of Fahr′s disease. Case Report: A 19-year-old female was transferred to our hospital for a pacemaker insertion. Her past medical history included cognitive impairment and asymptomatic congenital complete heart block since birth. Her manifestations in-cluded cognitive impairment, tremors, rigidity, ataxia, bilateral basal ganglia calcification without clinical manifesta-tions of mitochondrial cytopathy. She also had right bundle branch block, left anterior fascicular block, intermittent complete heart block, atrial arrhythmias with advanced atrioventricular blocks and ventricular asystole manifested by Stokes-Adams seizures, which was diagnosed as epilepsy. Conclusions: According to our knowledge, this was the first case report of a su spected association between Fahr′s disease and isolated cardiac conduction system disease. In addition, this case illustrated that in patients with heart blocks and seizures, a diagnosis of epilepsy needs to be made with caution and such patients need further evaluations by a cardiologist or electrophysiologist to consider pacing and prevent future catastrophic events.

  18. [Acute encephalic manifestations in Senegalese children with sickle cell disease].

    Science.gov (United States)

    Diagne, I; Diagne-Guèye, N R; Fall, L; Ndiaye, O; Camara, B; Diouf, S; Signate-Sy, H; Kuakuvi, N

    2001-01-01

    The course of sickle cell disease (SCD) may be complicated by neurologic events, mainly bactérial meningitidis and stroke. We retrospectively studied all cases with acute encephalic manifestations (AEM) in a cohort of 461 children and adolescents with SCD followed at Albert Royer Children Hospital of Dakar (Senegal) from january 1991 to december 2000 (ten years). Among them 438 had sickle cell anemia (SCA), 19 SC disease and 4 S-beta thalassemia (3 S-beta+, 1 S-beta0). Seven patients, all with SCA, presented antecedents of AEM revealed by flacid and proportionnal hemiplegia evoking stroke. Prevalence of these AEM was 1.5 per cent among patients with SCD and 1.6 per cent among those with SCA. They were 4 girls and 3 boys (sex ratio = 0.75) aged 4 to 8.5 years when occurred the first accident. We observed no clinical or biological distinctive characteristic of SCA in these patients compared to those without crebrovascular accident. Recurrence was observed once in a boy after a 12 months interval and twice in a girl after 20 and 60 months intervals successively. No transfusionnal program was applied to prevent recurrent stroke because of insufficient conditions for long-term transfusion. Stroke appears to be rare in senegalese children with SCD. However it poses in our context the major problem of applicability of transfusionnal program which constitute the only therapy universally recognised to be effective to prevent recurrence. Nevertheless hydroxyurea could be a satisfactory alternative.

  19. Cardiac ion channels in health and disease.

    Science.gov (United States)

    Amin, Ahmad S; Tan, Hanno L; Wilde, Arthur A M

    2010-01-01

    Cardiac electrical activity depends on the coordinated propagation of excitatory stimuli through the heart and, as a consequence, the generation of action potentials in individual cardiomyocytes. Action potential formation results from the opening and closing (gating) of ion channels that are expressed within the sarcolemma of cardiomyocytes. Ion channels possess distinct genetic, molecular, pharmacologic, and gating properties and exhibit dissimilar expression levels within different cardiac regions. By gating, ion channels permit ion currents across the sarcolemma, thereby creating the different phases of the action potential (e.g., resting phase, depolarization, repolarization). The importance of ion channels in maintaining normal heart rhythm is reflected by the increased incidence of arrhythmias in inherited diseases that are linked to mutations in genes encoding ion channels or their accessory proteins and in acquired diseases that are associated with changes in ion channel expression levels or gating properties. This review discusses ion channels that contribute to action potential formation in healthy hearts and their role in inherited and acquired diseases.

  20. Behcet’s Disease: Systemic and Ocular Manifestations

    Directory of Open Access Journals (Sweden)

    Jelena Paovic

    2013-01-01

    Full Text Available Aim. The aim of this study was to evaluate if patients with Behcet’s disease who have ocular involvement have a more severe form of this disease as compared to patients with Behcet’s disease alone. Methods. A total of 99 patients were included in the study. 76 patients were used as part of the examined group, and 23 patients formed a control group. Results. The following are the results of examined and control groups, respectively: recurrent oral aphthous ulcers 89.5%, 95.7%; genital ulcers 61.8%, 97.0%; articular involvement 72.4%, 65.2%; vasculitis 81.6%, 60.9%; positive pathergy test 25.0%, 47.8%. Higher frequency of genital ulcerations was noted in control group (P=0.001. More than two major criteria were met in 100% of the cases. HLA B51 was present in 78.9% of the cases in the examined group and 43.5% of the cases in control group; thus there is significant difference between them (P=0.001. Visual acuity >0.5 occurred in 76% (examined group. Most frequent ocular manifestations in the examined group were retinal periphlebitis 81.6%, periphlebitis and periarteritis 65%, and serofibrinous uveitis 63.2%. Macular edema as a complication was present in 63.2%. The majority of patients (55.3% were treated with combined therapy consisting of cyclosporine A and systemic corticosteroids. In 38.2% of patients, laser photocoagulation was used on retinal periphery.

  1. Subjective cognitive decline: The first clinical manifestation of Alzheimer's disease?

    Directory of Open Access Journals (Sweden)

    Adalberto Studart Neto

    Full Text Available ABSTRACT Background: Mild cognitive impairment is considered as the first clinical manifestation of Alzheimer's disease (AD, when the individual exhibits below performance on standardized neuropsychological tests. However, some subjects before having a lower performance on cognitive assessments already have a subjective memory complaint. Objective: A review about subjective cognitive decline, the association with AD biomarkers and risk of conversion to dementia. Methods: We performed a comprehensive non-systematic review on PubMed. The keywords used in the search were terms related to subjective cognitive decline. Results: Subjective cognitive decline is characterized by self-experience of deterioration in cognitive performance not detected objectively through formal neuropsychological testing. However, various terms and definitions have been used in the literature and the lack of a widely accepted concept hampers comparison of studies. Epidemiological data have shown that individuals with subjective cognitive decline are at increased risk of progression to AD dementia. In addition, there is evidence that this group has a higher prevalence of positive biomarkers for amyloidosis and neurodegeneration. However, Alzheimer's disease is not the only cause of subjective cognitive decline and various other conditions can be associated with subjective memory complaints, such as psychiatric disorders or normal aging. The features suggestive of a neurodegenerative disorder are: onset of decline within the last five years, age at onset above 60 years, associated concerns about decline and confirmation by an informant. Conclusion: These findings support the idea that subjective cognitive complaints may be an early clinical marker that precedes mild cognitive impairment due to Alzheimer's disease.

  2. Cardiac magnetic resonance feature tracking in Kawasaki disease convalescence.

    Science.gov (United States)

    Bratis, Konstantinos; Hachmann, Pauline; Child, Nicholas; Krasemann, Thomas; Hussain, Tarique; Mavrogeni, Sophie; Botnar, Rene; Razavi, Reza; Greil, Gerald

    2017-01-01

    The objective of this study was to determine whether left ventricular (LV) myocardial deformation indices can detect subclinical abnormalities in Kawasaki disease convalescence. We hypothesized that subclinical myocardial abnormalities due to inflammation represent an early manifestation of the disease that persists in convalescence. Myocardial inflammation has been described as a global finding in the acute phase of Kawasaki disease. Despite normal systolic function by routine functional measurements, reduced longitudinal strain and strain rate have been detected by echocardiography in the acute phase. Peak systolic LV myocardial longitudinal, radial, and circumferential strain and strain rate were examined in 29 Kawasaki disease convalescent patients (15 males; mean [standard deviation] age: 11 [6.6] years; median interval from disease onset: 5.8 [5.4] years) and 10 healthy volunteers (5 males; mean age: 14 [3.8] years) with the use of cardiac magnetic resonance (CMR) feature tracking. Routine indices of LV systolic function were normal in both groups. Comparisons were made between normal controls and (i) the entire Kawasaki disease group, (ii) Kawasaki disease subgroup divided by coronary artery involvement. Average longitudinal and circumferential strain at all levels was lower in patients compared to normal controls. In subgroup analysis, both Kawasaki disease patients with and without a history of coronary involvement had similar longitudinal and circumferential strain at all levels and lower when compared to controls. There were lower circumferential and longitudinal values in Kawasaki disease patients with persisting coronary artery lesions when compared to those with regressed ones. In this CMR study in Kawasaki disease convalescent patients with preserved routine functional indices, we detected lower circumferential and longitudinal strain values compared to normal controls, irrespective of the coronary artery status.

  3. Rare Lung Diseases: Interstitial Lung Diseases and Lung Manifestations of Rheumatological Diseases.

    Science.gov (United States)

    Ramamurthy, Mahesh Babu; Goh, Daniel Y T; Lim, Michael Teik Chung

    2015-10-01

    The concept of Childhood Interstitial Lung Disease (ChILD) is relatively young. There has been tremendous progress in this field in the last decade. The key advance has been the recognition of interstitial lung diseases that are often distinct and occur mainly in infants. Diagnosis is challenging because the incidence is low and no single center in the world has enough cases to promote experience and clinical skills. This has led to formation of international groups of people interested in the field and the "Children's interstitial and diffuse lung disease research network" (ChILDRN) is one such group which contributed to the progress of this field. Clinically, these disorders overlap with those of other common respiratory disorders. Hence, clinical practice guidelines emphasize the additional role of chest imaging, genetic testing and lung biopsy in the diagnostic evaluation. Genetic testing, in particular, has shown tremendous progress in this field. Being noninvasive, it has the potential to help early recognition in a vast majority. Despite progress, definitive therapeutic modalities are still lacking and supportive care is still the backbone of management in the majority. Early recognition of the definitive diagnosis helps in the management, even if, in a significant number, it helps in avoiding unnecessary therapy. Also discussed in this article, is the pulmonary manifestation of rheumatic diseases in children. The incidence and spectrum of pulmonary involvement in rheumatic conditions vary and can be result of the primary disease or its management or due to an concurrent infection.

  4. Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis.

    Science.gov (United States)

    Bissell, Lesley-Anne; Anderson, Marina; Burgess, Malcolm; Chakravarty, Kuntal; Coghlan, Gerry; Dumitru, Raluca B; Graham, Lee; Ong, Voon; Pauling, John D; Plein, Sven; Schlosshan, Dominik; Woolfson, Peter; Buch, Maya H

    2017-06-01

    Cardiac disease in SSc can manifest in various ways and is associated with a poor prognosis. There is little evidence on how best to detect and manage cardiac disease in SSc. Our objective was to produce an expert consensus best practice pathway for the management of cardiac disease in SSc. The UK Systemic Sclerosis Study Group set up several working groups to develop a number of consensus best practice pathways for the management of SSc-specific complications, including cardiac disease. A multidisciplinary task force was convened. The guidelines were partly informed by a comprehensive literature review. A best practice pathway for cardiac disease (with a focus on primary cardiac disease) in SSc is presented, including approaches for early detection and standard pharmacological and device therapies. Due to the benefits, shared care and a multidisciplinary approach are recommended. A future research agenda has been formulated in response to the relative lack of understanding of the natural history of primary cardiac disease that was highlighted by the initiative. The physician should be alert to the possibility of cardiac disease in SSc; it is best managed within a multidisciplinary team including both rheumatologists and cardiologists. This pathway provides a reference for all physicians managing patients with SSc.

  5. Emerging acute Chagas Disease in Amazonian Brazil: case reports with serious cardiac involvement

    Directory of Open Access Journals (Sweden)

    Ana Yecê das Neves Pinto

    2004-12-01

    Full Text Available Four cases of serious cardiac attacks by autochthonous Trypanosoma cruzi infection from the Brazilian Amazon are reported; three of them occurred in micro-epidemic episodes. The manifestations included sudden fever, myalgia, dyspnea and signs of heart failure. Diagnosis was confirmed by specific exams, especially QBC (Quantitative Buffy Coat and natural xenodiagnosis. Despite treatment with benznidazol, three patients died with serious myocarditis, renal failure and cardiac tamponade. The authors call attention to the emergence of this disease and reveal a previously unknown pathogenicity of T. cruzi strains in this area, added to a non-usual transmission form.

  6. Emerging acute Chagas Disease in Amazonian Brazil: case reports with serious cardiac involvement

    Directory of Open Access Journals (Sweden)

    Ana Yecê das Neves Pinto

    Full Text Available Four cases of serious cardiac attacks by autochthonous Trypanosoma cruzi infection from the Brazilian Amazon are reported; three of them occurred in micro-epidemic episodes. The manifestations included sudden fever, myalgia, dyspnea and signs of heart failure. Diagnosis was confirmed by specific exams, especially QBC (Quantitative Buffy Coat and natural xenodiagnosis. Despite treatment with benznidazol, three patients died with serious myocarditis, renal failure and cardiac tamponade. The authors call attention to the emergence of this disease and reveal a previously unknown pathogenicity of T. cruzi strains in this area, added to a non-usual transmission form.

  7. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    Science.gov (United States)

    Chabria, Shiven B; Lawrason, Jock

    2007-01-01

    Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance of a high index of clinical suspicion in detection of Lyme disease related manifestations in endemic areas. PMID:17688693

  8. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    Directory of Open Access Journals (Sweden)

    Chabria Shiven B

    2007-08-01

    Full Text Available Abstract Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance of a high index of clinical suspicion in detection of Lyme disease related manifestations in endemic areas.

  9. Altered mental status, an unusual manifestation of early disseminated Lyme disease: A case report

    OpenAIRE

    2007-01-01

    Abstract Early disseminated Lyme disease can have a myriad of central nervous system manifestations. These run the gamut from meningitis to radiculopathy and cranial neuropathy. Here we present a case that manifested with only acute mental status change in the setting of central nervous system involvement with Lyme disease. A paucity of other central nervous system manifestations is rare, especially with positive serum and cerebrospinal fluid markers. This article underscores the importance o...

  10. [Subcutaneous sarcoidosis as the first manifestation of systemic disease].

    Science.gov (United States)

    Calzado, Leticia; Galera, Carmen María; Arrue, Itziar; Rodríguez-Peralto, José L; López, Sara; Guerra, Aurora; Vanaclocha, Francisco

    2005-01-01

    There are dermatological symptoms in up to 25% of patients with sarcoidosis, and the appearance of specific subcutaneous nodules as a manifestation of this entity is rare. They may even predate other manifestations of sarcoidosis. We present the case of a 38-year-old woman with asymptomatic subcutaneous nodules in the limbs, which corresponded to deep sarcoid granulomas in the histological study. She did not present with any extracutaneous indications. The imaging tests performed revealed right paratracheal adenopathies. This led to the diagnosis of sarcoidosis, in both its subcutaneous and pulmonary forms (stage I). Subcutaneous sarcoidosis is probably an underdiagnosed entity, as fewer than 40 cases are reflected in literature. Its value lies in the fact that it may be the first manifestation of extracutaneous or systemic sarcoidosis, which means that this form of sarcoidosis must be considered in the differential diagnosis of subcutaneous nodular lesions; close follow-up of these patients is also necessary.

  11. Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

    Directory of Open Access Journals (Sweden)

    Raheel Mushtaq

    2013-01-01

    Full Text Available Fahr′s disease (FD is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.

  12. Neuropsychiatric manifestations of Fahr′s disease pathogenesis and potential for treatment

    OpenAIRE

    Raheel Mushtaq; Sheikh Shoib; M. S. V. K Raju; Nilesh Naphade; Tabindah Shah; Alka Pawar

    2013-01-01

    Fahr's disease (FD) is a rare neuropsychiatric disease consisting of bilateral basal ganglia calcification with neurological, cognitive, and psychiatric manifestations. We report here a sporadic case of FDs with its neuropsychology.

  13. Acute Cardiac Tamponade in a 77-year-old Italian Woman with Erdheim-Chester Disease

    Directory of Open Access Journals (Sweden)

    Maria Kyriakopoulou

    2016-11-01

    Full Text Available Erdheim-Chester disease (ECD is a non-Langerhans’ histiocytosis and a very rare multisystemic disease of unknown aetiology, with skeletal involvement of the long bones and in more than 50% of cases with extraskeletal involvement. The disease was described in 1930 by the anatomopathologist Jakob Erdheim and his student William Chester. More than 500 cases have since been reported. We report the case of a 77-year-old Italian woman with ECD who was admitted to hospital for acute cardiac tamponade. The patient presented with simultaneous cutaneous, retro-orbital, skeletal, cerebral and cardiovascular manifestations and was successfully treated with corticosteroids followed by interferon.

  14. Cardiac device implantation in Fabry disease

    Science.gov (United States)

    Sené, Thomas; Lidove, Olivier; Sebbah, Joel; Darondel, Jean-Marc; Picard, Hervé; Aaron, Laurent; Fain, Olivier; Zenone, Thierry; Joly, Dominique; Charron, Philippe; Ziza, Jean-Marc

    2016-01-01

    Abstract The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD. Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy. Six patients (4M/2F) required a pacemaker (PM) for sinus node dysfunction (n = 4) or atrioventricular disease (n = 2). One female patient required an internal cardioverter-defibrillator (ICD) to prevent sudden cardiac death because of nonsustained ventricular tachycardia (nSVT). One female patient required PM-ICD for sinus node dysfunction and nSVT. One patient underwent CD implantation before the diagnosis of FD. The annual rate of CD implantation was estimated at 1.90 per 100 person years. On univariate analysis at the end of the follow-up period, the factors associated with ACAs requiring CD implantation were as follows: delayed diagnosis of FD, delayed initiation of enzyme replacement therapy, age at the last follow-up visit, and severe multiorgan phenotype (hypertrophic cardiomyopathy, chronic kidney disease, and/or sensorineural hearing loss). On multivariate analysis, age at diagnosis of FD and age at the last follow-up visit were independently associated with an increased risk of ACAs requiring CD (P sudden death in patients with FD, regular monitoring is mandatory, especially in patients with a late diagnosis of FD and/or with a severe phenotype. Regular Holter ECGs, therapeutic education of patients, and deliverance of an emergency card including a phenotype summary are crucial in the care of FD patients. Available guidelines for device therapy and the

  15. The impact of type 2 diabetes and Microalbuminuria on future cardiovascular events in patients with clinically manifest vascular disease from the Second Manifestations of ARTerial Disease (SMART) study

    NARCIS (Netherlands)

    Soedamah-Muthu, S.S.; Visseren, F.L.J.; Algra, A.; Graaf, van der Y.

    2008-01-01

    Aims Type 2 diabetes mellitus and microalbuminuria are important risk factors for cardiovascular disease (CVD). Whether these two complications are important and independent risk factors for future CVD events in a high-risk population with clinically manifest vascular disease is unknown. The objecti

  16. Impact of cardiac disease on couples' relationships.

    Science.gov (United States)

    Mahrer-Imhof, Romy; Hoffmann, Andreas; Froelicher, Erika Sivarajan

    2007-03-01

    This paper reports a study to describe meanings that couples mutually assign to, and practices they develop, after the onset of cardiac disease and to understand the impact of the illness on the couples' relationships in everyday life. Patients as well as partners are affected by the onset of cardiovascular disease. Social support within intimate relationships has been shown to be important for patient survival and well-being, and couples' coping strategies are pivotal for well-being and adjustment to the chronic condition in both patients with cardiovascular disease and their partners. Twenty-four couples participated in this phenomenological study. Data were collected during 2003. Participants were interviewed after having been hospitalized due to an acute event and having participated in a rehabilitation programme. Three in-depth interviews were obtained for each dyad: one couple interview and two individual interviews with each partner of the dyad. Paradigm cases were sought and thematic analyses conducted. All couples experienced a 'brush with death' at the onset of heart disease, which called for changes in lifestyle. Three distinct patterns of dealing with the illness emerged. The first revealed that some couples assess the illness as a positive, transformative experience in their lives, bringing them closer together. The second showed that a proportion of couples experience the illness as a threat which imposes fear on both partners. The challenges are faced as mutual tasks and new routines are developed. The third pattern revealed couples who experience a missed opportunity to change. These couples are disenchanted about each other but return to life as usual. Nurses can use the information gained from this study to support couples in their attempts to come to terms with the illness, and can enhance their supportive role in rehabilitation efforts.

  17. Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Sodium Channel

    NARCIS (Netherlands)

    Wilde, Arthur A. M.; Brugada, Ramon

    2011-01-01

    Variations in the gene encoding for the major sodium channel (Na(v)1.5) in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes (with or without structural changes in the myocardium), including the long-QT syndrome (type 3), Brugada syndrome, (progressive) cardiac conduction di

  18. Advances in cardiac magnetic resonance imaging of congenital heart disease

    NARCIS (Netherlands)

    Driessen, Mieke M P; Breur, Johannes M. P. J.; Budde, Ricardo P J; van Oorschot, Joep W M; van Kimmenade, Roland R J; Sieswerda, Gertjan Tj.; Meijboom, Folkert J; Leiner, Tim

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advan

  19. Clinical Manifestations Vary with Different Age Spectrums in Infants with Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Hao-Chuan Liu

    2012-01-01

    Full Text Available Background. Kawasaki disease (KD is an acute systemic vasculitis with unknown etiology. The diagnosis of KD depends on clinical manifestations. The prevalence of coronary artery abnormality (CAA is 11.0% and results in cardiac sequelae, such as myocardial infarction or coronary aneurysm, which are the most serious complications in KD. Methods. We divided KD's children into different age groups: ≤6 months old, 7 months to 1 year old, and >1 year old, respectively. Different parameters were compared in each group. Results. Infants ≤6 months old are less likely to fulfill KD's major diagnostic criteria within 10 days, are prone to develop incomplete KD with the lowest cholesterol level, and have the greatest chance to have CAA and the laboratory features associated with CAA, such as the longest time needed to confirm CA diagnosis, lower hemoglobin level, lower albumin level, and higher platelet count. Infants <1 year old develop higher percentage of leukocytosis and sterile pyuria. But this group has fewer patients with neck lymphadenopathy.

  20. Cardiac CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Siripornpitak, Suvipaporn, E-mail: ssiripornpitak@yahoo.com [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Pornkul, Ratanaporn [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Khowsathit, Pongsak [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Layangool, Thanarat; Promphan, Worakan [Pediatric Cardiology Unit, Queen Sirikit National Institute of Child Health, Bangkok (Thailand); Pongpanich, Boonchob [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand)

    2013-07-15

    Cardiac imaging plays an important role in both congenital and acquired heart diseases. Cardiac computed tomography (angiography) cCT(A) is a non-invasive, increasingly popular, complementary modality to echocardiography in evaluation of congenital heart diseases (CHD) in children. Despite radiation exposure, cCT(A) is now commonly used for evaluation of the complex CHD, giving information of both intra-cardiac and extra-cardiac anatomy, coronary arteries, and vascular structures. This review article will focus on the fundamentals and essentials for performing cCT(A) in children, including radiation dose awareness, basic techniques, and strengths and weaknesses of cCT(A) compared with cardiac magnetic resonance imaging (cMRI), and applications. The limitations of this modality will also be discussed, including the CHD for which cMRI may be substituted.

  1. Extraintestinal manifestations in Crohn's disease and ulcerative colitis

    DEFF Research Database (Denmark)

    Isene, Rune; Bernklev, Tomm; Høie, Ole

    2015-01-01

    BACKGROUND: In chronic inflammatory bowel disease (IBD) (Crohn's disease [CD] and ulcerative colitis [UC]), symptoms from outside the gastrointestinal tract are frequently seen, and the joints, skin, eyes, and hepatobiliary area are the most usually affected sites (called extraintestinal...

  2. Spectacular manifestations of systemic diseases of the snake

    DEFF Research Database (Denmark)

    Da Silva, Mari-Ann Otkjær; Bertelsen, Mads Frost; Heegaard, Steffen

    2015-01-01

    This paper reports histopathological findings in the spectacles of four snakes diagnosed with systemic gout, inclusion body disease, disseminated lymphoma and myeloproliferative disease, respectively. Gout was characterised by urate ghost tophi in the stroma and outer epithelium of the spectacle....

  3. Curcumin as a potential protective compound against cardiac diseases.

    Science.gov (United States)

    Jiang, Shuai; Han, Jing; Li, Tian; Xin, Zhenlong; Ma, Zhiqiang; Di, Wencheng; Hu, Wei; Gong, Bing; Di, Shouyin; Wang, Dongjin; Yang, Yang

    2017-03-05

    Curcumin, which was first used 3000 years ago as an anti-inflammatory agent, is a well-known bioactive compound derived from the active ingredient of turmeric (Curcuma longa). Previous research has demonstrated that curcumin has immense therapeutic potential in a variety of diseases via anti-oxidative, anti-apoptotic, and anti-inflammatory pathways. Cardiac diseases are the leading cause of mortality worldwide and cause considerable harm to human beings. Numerous studies have suggested that curcumin exerts a protective role in the human body whereas its actions in cardiac diseases remain elusive and poorly understood. On the basis of the current evidence, we first give a brief introduction of cardiac diseases and curcumin, especially regarding the effects of curcumin in embryonic heart development. Secondly, we analyze the basic roles of curcumin in pathways that are dysregulated in cardiac diseases, including oxidative stress, apoptosis, and inflammation. Thirdly, actions of curcumin in different cardiac diseases will be discussed, as will relevant clinical trials. Eventually, we would like to discuss the existing controversial opinions and provide a detailed analysis followed by the remaining obstacles, advancement, and further prospects of the clinical application of curcumin. The information compiled here may serve as a comprehensive reference of the protective effects of curcumin in the heart, which is significant to the further research and design of curcumin analogs as therapeutic options for cardiac diseases.

  4. Neurologic and Psychiatric Manifestations of Celiac Disease and Gluten Sensitivity

    OpenAIRE

    Jackson, Jessica R.; Eaton, William W; Cascella, Nicola G.; Fasano, Alessio; Kelly, Deanna L.

    2012-01-01

    Celiac Disease (CD) is an immune-mediated disease dependent on gluten (a protein present in wheat, rye or barley) that occurs in about 1% of the population and is generally characterized by gastrointestinal complaints. More recently the understanding and knowledge of gluten sensitivity (GS), has emerged as an illness distinct from celiac disease with an estimated prevalence 6 times that of CD. Gluten sensitive people do not have villous atrophy or antibodies that are present in celiac disease...

  5. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

    Science.gov (United States)

    Goldfarb, Lev G; Dalakas, Marinos C

    2009-07-01

    Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or alphaB-crystallin, a chaperone for desmin. The range of clinical manifestations in patients with desminopathy is wide and may overlap with those observed in individuals with other myopathies. Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications.

  6. Intrathoracic manifestations of collagen vascular diseases on high-resolution chest computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Silva, C. Isabela S. [University of British Columbia, Vancouver (Canada). Vancouver General Hospital]. E-mail: isabela.silva@vch.ca; Mueller, Nestor L. [University of British Columbia, Vancouver (Canada). Vancouver General Hospital. Dept. of Radiology

    2008-05-15

    Intrathoracic manifestations of collagen vascular diseases are very common. The frequency of intrathoracic manifestations and the patterns of abnormality are variable depending on the type of collagen vascular disease and may simultaneously involve one or more of the following: lung parenchyma, airways, pulmonary vessels, pericardium, and pleura. The most common pulmonary manifestations are diffuse interstitial pneumonia and pulmonary hypertension which together represent the main causes of morbidity and mortality of these patients. Pulmonary, airway and pleural involvement may also be secondary to the disease therapy, or result from bacterial pneumonia or opportunistic infection. In the present review, the authors summarize the main intrathoracic manifestations of collagen vascular diseases and the differential diagnosis on high-resolution chest computed tomography. (author)

  7. What rheumatologists should know about orofacial manifestations of autoimmune rheumatic diseases

    Directory of Open Access Journals (Sweden)

    Aline Lauria Pires Abrão

    Full Text Available ABSTRACT Orofacial manifestations occur frequently in rheumatic diseases and usually represent early signs of disease or of its activity that are still neglected in clinical practice. Among the autoimmune rheumatic diseases with potential for oral manifestations, rheumatoid arthritis (RA, inflammatory myopathies (IM, systemic sclerosis (SSc, systemic lupus erythematosus (SLE, relapsing polychondritis (RP and Sjögren's syndrome (SS can be cited. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, lesions of the oral mucosa, periodontal disease, dysphagia, and dysphonia may be the first expression of these rheumatic diseases. This article reviews the main orofacial manifestations of rheumatic diseases that may be of interest to the rheumatologist for diagnosis and monitoring of autoimmune rheumatic diseases.

  8. Marine mammal zoonoses: a review of disease manifestations.

    Science.gov (United States)

    Waltzek, T B; Cortés-Hinojosa, G; Wellehan, J F X; Gray, Gregory C

    2012-12-01

    Marine mammals evoke strong public affection as well as considerable scientific interest. However, the resultant close contact with marine wildlife poses human health risks, including traumatic injury and zoonotic disease transmission. The majority of zoonotic marine mammal diseases result in localized skin infections in man that resolve spontaneously or with appropriate medical therapy. However, other marine mammal zoonoses, if left untreated, induce life-threatening systemic diseases that could pose public health risks. As the number of zoonotic diseases rises, the diagnosis of and treatment for these emerging pathogens pose special challenges requiring the expertise of physicians, veterinarians and wildlife biologists. Here, we provide a comprehensive review of the bacterial, viral and fungal marine mammal zoonotic diseases that we hope will be utilized by public health professionals, physicians, veterinarians and wildlife biologists to better understand, diagnose and prevent marine mammal zoonotic diseases. 2012 Blackwell Verlag GmbH

  9. Aseptic Splenic Abscess as Precursory Extraintestinal Manifestation of Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Joel Brooks

    2014-01-01

    Full Text Available Splenic abscesses are most often secondary to aerobic bacterial infections due to Streptococcus, Staphylococcus, and Enterococcus species of organisms. Sterile splenic abscesses rarely occur and diagnosis and treatment of those are challenging. We report a case of a previously healthy young female presenting with aseptic splenic abscesses as the initial manifestation of Crohn’s disease along with a review of the literature on aseptic splenic abscess as an extraintestinal manifestation of Crohn’s disease.

  10. Immunoglobulin G4-related disease: autoimmune pancreatitis and extrapancreatic manifestations*

    Science.gov (United States)

    Fernandes, Daniel Alvarenga; Kido, Ricardo Yoshio Zanetti; Barros, Ricardo Hoelz de Oliveira; Martins, Daniel Lahan; Penachim, Thiago José; Caserta, Nelson Marcio Gomes

    2016-01-01

    We present a case of immunoglobulin G4 (IgG4)-related disease with pancreatic and extrapancreatic involvement, including the biliary and renal systems. Given the importance of imaging methods for the diagnosis of IgG4-related disease and its differentiation from pancreatic adenocarcinoma, we emphasize important abdominal computed tomography and magnetic resonance imaging findings related to this recently recognized systemic autoimmune disease. PMID:27141136

  11. Immunoglobulin G4-related disease: autoimmune pancreatitis and extrapancreatic manifestations

    Directory of Open Access Journals (Sweden)

    Daniel Alvarenga Fernandes

    2016-04-01

    Full Text Available Abstract We present a case of immunoglobulin G4 (IgG4-related disease with pancreatic and extrapancreatic involvement, including the biliary and renal systems. Given the importance of imaging methods for the diagnosis of IgG4-related disease and its differentiation from pancreatic adenocarcinoma, we emphasize important abdominal computed tomography and magnetic resonance imaging findings related to this recently recognized systemic autoimmune disease.

  12. Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.

    Science.gov (United States)

    Sjouke, B; van der Stappen, J W J; Groener, J E M; Pepping, A; Wevers, R A; Gouw, A; Dikkeschei, L D; Mijnhout, S; Hovingh, G K; Alleman, M A

    2015-03-01

    Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly from childhood onwards. These two cases exemplify the diversity of clinical phenotypes of patients with CESD. Knowledge on the phenotypic variability of the disease is of clinical relevance in light of enzyme replacement therapy (sebelipase alpha) for patients with mutations in LIPA, which is currently under development.

  13. Multiple sclerosis or neurological manifestations of Celiac disease

    Directory of Open Access Journals (Sweden)

    Vahid Shaygannejad

    2013-01-01

    Full Text Available Multiple sclerosis (MS and celiac disease (CD are considered to be T-cell-mediated autoimmune disease. We discuss about a known case of CD-showed relapsing - remitting neurological symptoms compatible with MS. In this rare co-occurrence subject, MS-CD patient, the interaction between MS - and CD-related inflammatory processes is open to discussion.

  14. [Ocular manifestations of rheumatic diseases. Cooperation between internist/ophthalmologist].

    Science.gov (United States)

    Tyndall, A; Steiger, U

    1993-05-01

    A red or painful eye may be the clue to a systemic condition, many of which are of a rheumatological or immunological nature. Conjunctivitis may occur in Sjögren's Syndrome, Reiter's Syndrome (and other sero negative spondyloarthropathies) and with infections such as chlamydia and viruses. 70% of cases of episcleritis are idiopathic, the other 30% being associated with rheumatoid arthritis or other connective tissue diseases or herpes zoster infection. Scleritis may be seen with connective tissue diseases or auto immune conditions (rheumatoid arthritis, Wegener granulomatosis, polyarteritis nodosa, relapsing polychondritis, SLE), infections (herpes, tuberculosis, syphilis, aspergillosis) or metabolic (gout, porphyria, cystinosis). Retinal vasculitis is seen in SLE, Behçet's Disease, sarcoidosis, polyarteritis nodosa, Whipple's disease and Crohn's disease among others. However, uveitis presents perhaps the greatest diagnostic challenge and interface between ophthalmology and rheumatology. Some syndromes are purely ophthalmological (eg: Fuch's heterochromic cyclitis) but others may lead to the diagnosis of a rheumatic disorder (eg: recurrent unilateral acute anterior uveitis and ankylosing spondylitis). Systemic syndromes most likely to be associated with uveitis are Reiter's disease, ankylosing spondylitis, sarcoidosis, juvenile arthritis, interstitial nephritis, inflammatory bowel disease, syphilis. The patterns are different, eg: acute painful unilateral anterior uveitis with ankylosing spondylitis and chronic asymptomatic bilateral uveitis in juvenile arthritis (ANA positive, pauci-articular) or bilateral symptomatic uveitis in sarcoidosis. An illustrative case will be presented and an algorithm for the evaluation of uveitis discussed.

  15. Challenges to success in heart failure: Cardiac cell therapies in patients with heart diseases.

    Science.gov (United States)

    Oh, Hidemasa; Ito, Hiroshi; Sano, Shunji

    2016-11-01

    Heart failure remains the leading cause of death worldwide, and is a burgeoning problem in public health due to the limited capacity of postnatal hearts to self-renew. The pathophysiological changes in injured hearts can sometimes be manifested as scar formation or myocardial degradation, rather than supplemental muscle regeneration to replenish lost tissue during the healing processes. Stem cell therapies have been investigated as a possible treatment approach for children and adults with potentially fatal cardiovascular disease that does not respond to current medical therapies. Although the heart is one of the least regenerative organs in mammals, discoveries made during the past few decades have improved our understanding of cardiac development and resident stem/progenitor pools, which may be lineage-restricted subpopulations during the post-neonatal stage of cardiac morphogenesis. Recently, investigation has specifically focused on factors that activate either endogenous progenitor cells or preexisting cardiomyocytes, to regenerate cardiovascular cells and replace the damaged heart tissues. The discovery of induced pluripotent stem cells has advanced our technological capability to direct cardiac reprogramming by essential factors that are crucial for heart field completion in each stage. Cardiac tissue engineering technology has recently shown progress in generating myocardial tissue on human native cardiac extracellular matrix scaffolds. This review summarizes recent advances in the field of cardiac cell therapies with an emphasis on cellular mechanisms, such as bone marrow stem cells and cardiac progenitor cells, which show the high potential for success in preclinical and clinical meta-analysis studies. Expanding our current understanding of mechanisms of self-renewal in the neonatal mammalian heart may lead to the development of novel cardiovascular regenerative medicines for pediatric heart diseases. Copyright © 2016 Japanese College of Cardiology

  16. COPD is a systemic disease – the ex trapulmonary manifestations

    African Journals Online (AJOL)

    COPD is defined as a preventable and treatable respiratory disease ... inhalation of noxious particles, particularly cigarette smoke. Although ... Depression and anxiety .... Cruetzberg E. Leptin in relation to systemic inflammation and regulation.

  17. Chikungunya fever. Rheumatic manifestations of an emerging disease in Europe.

    Science.gov (United States)

    Horcada, M Loreto; Díaz-Calderón, Carlos; Garrido, Laura

    2015-01-01

    Chikungunya fever is a viral disease caused by an alphavirus belonging to the Togaviridae family, transmitted by several species of Aedes mosquitoes: Aedes aegypti and Aedes albopictus (A. albopictus). It is endemic in Africa and Asia with recurrent outbreaks. It is an emerging disease and cases in Europe transmitted by A. albopictus have been established in Mediterranean areas. The first autochthonous cases detected on the Caribbean islands suppose a serious threat of spreading disease to America, which so far has been disease free. Clinical symptoms begin abruptly with fever, skin rash and polyarthritis. Although mortality is low, a high percentage of patients develop a chronic phase defined by persistent arthritis for months or even years. A severe immune response is responsible for joint inflammation. The absence of specific treatment and lack of vaccine requires detailed studies about its immunopathogenesis in order to determine the most appropriate target. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  18. Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

    Science.gov (United States)

    Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

    2012-04-01

    Huntington's disease is an inherited neurodegenerative disease that causes motor, cognitive and psychiatric impairment, including an early decline in ability to recognize emotional states in others. The pathophysiology underlying the earliest manifestations of the disease is not fully understood; the objective of our study was to clarify this. We used functional magnetic resonance imaging to investigate changes in brain mechanisms of emotion recognition in pre-manifest carriers of the abnormal Huntington's disease gene (subjects with pre-manifest Huntington's disease): 16 subjects with pre-manifest Huntington's disease and 14 control subjects underwent 1.5 tesla magnetic resonance scanning while viewing pictures of facial expressions from the Ekman and Friesen series. Disgust, anger and happiness were chosen as emotions of interest. Disgust is the emotion in which recognition deficits have most commonly been detected in Huntington's disease; anger is the emotion in which impaired recognition was detected in the largest behavioural study of emotion recognition in pre-manifest Huntington's disease to date; and happiness is a positive emotion to contrast with disgust and anger. Ekman facial expressions were also used to quantify emotion recognition accuracy outside the scanner and structural magnetic resonance imaging with voxel-based morphometry was used to assess the relationship between emotion recognition accuracy and regional grey matter volume. Emotion processing in pre-manifest Huntington's disease was associated with reduced neural activity for all three emotions in partially separable functional networks. Furthermore, the Huntington's disease-associated modulation of disgust and happiness processing was negatively correlated with genetic markers of pre-manifest disease progression in distributed, largely extrastriatal networks. The modulated disgust network included insulae, cingulate cortices, pre- and postcentral gyri, precunei, cunei, bilateral putamena

  19. Polymorphic sites at the immunoregulatory CTLA-4 gene are associated with chronic chagas disease and its clinical manifestations.

    Directory of Open Access Journals (Sweden)

    Fabrício C Dias

    Full Text Available BACKGROUND: Chagas disease affects approximately 10 million people mainly in Latin America. The immune regulation by the host seems to be an essential factor for disease evolution, and immune system inhibitory molecules such as CTLA-4 and PD-1 favor the maintenance of peripheral tolerance. Considering that polymorphisms at the immunoregulatory CTLA-4 and PDCD1 genes may alter their inhibitory function, we investigated the association of alleles, genotypes and haplotypes of polymorphic sites observed at the CTLA-4 and PDCD1 genes with different clinical manifestations of chronic Chagas disease (indeterminate, cardiac, digestive and mixed. METHODS: The polymorphisms at the CTLA-4 (-1722T/C, -318C/T and +49A/G and PDCD1 (PD-1.3G/A genes were typed using TaqMan methodology in 277 chronic Chagas disease patients classified into four groups, according to clinical characteristics, and 326 non-infected controls. RESULTS: Our results showed that CTLA-4 -1722CC genotype (22%, -1722C allele (27% and CTLA-4 TCG (8.6%, TCA (26% and CCA (15% haplotypes were strongly associated with the indeterminate form, while the CTLA-4-318CT genotype (82% and CTLA-4-318T allele (47% were found mainly in patients with the mixed form of the disease. The CTLA-4 TCG haplotype (10.2% was associated with the digestive form. On the other hand, the PD-1.3G/A polymorphism was not associated with chronic Chagas disease and its clinical manifestations. CONCLUSIONS: Here, we showed that alleles, genotypes and haplotypes reported to increase the expression of the regulatory molecule CTLA-4 were associated with the indeterminate form of the disease. Taken together, our data support the idea that polymorphic sites at immunoregulatory genes may influence the development of Chagas disease variants.

  20. Cardiac catheterization in children with pulmonary hypertensive vascular disease.

    Science.gov (United States)

    Bobhate, Prashant; Guo, Long; Jain, Shreepal; Haugen, Richard; Coe, James Y; Cave, Dominic; Rutledge, Jennifer; Adatia, Ian

    2015-04-01

    The risks associated with cardiac catheterization in children with pulmonary hypertension (PH) are increased compared with adults. We reviewed retrospectively all clinical data in children with PH [mean pulmonary artery pressure (mean PAp) ≥25 mmHg and pulmonary vascular resistance index (PVRI) ≥3 Wood units m(2)] undergoing cardiac catheterization between 2009 and 2014. Our strategy included a team approach, minimal catheter manipulation and sildenafil administration prior to extubation. Adverse events occurring within 48 h were noted. Seventy-five patients (36 males), median age 4 years (0.3-17) and median weight 14.6 kg (2.6-77 kg), underwent 97 cardiac catheterizations. Diagnoses included idiopathic or heritable pulmonary arterial hypertension (PAH) (29 %), PAH associated with congenital heart disease (52 %), left heart disease (5 %) and lung disease (14 %). Mean PAp was 43 ± 19 mmHg; mean PVRI was 9.7 ± 6 Wood units m(2). There were no deaths or serious arrhythmias. No patient required cardiac massage. Three patients who suffered adverse events had suprasystemic PAp (3/3), heritable PAH (2/3), decreased right ventricular function (3/3), and pulmonary artery capacitance index <1 ml/mmHg/m(2) (3/3) and were treatment naïve (3/3). No patient undergoing follow-up cardiac catheterization suffered a complication. In 45 % of cases, the data acquired from the follow-up cardiac catheterization resulted in an alteration of therapy. Three percent of children with PH undergoing cardiac catheterization suffered adverse events. However, there were no intra or post procedural deaths and no one required cardiac massage or cardioversion. Follow-up cardiac catheterization in patients receiving pulmonary hypertensive targeted therapy is safe and provides useful information.

  1. ORAL MANIFESTATIONS OF CROHN'S DISEASE: A CASE REPORT

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    Muhvić-Urek Miranda

    2015-12-01

    Full Text Available Crohn´s disease is a chronic inflammatory bowel disease still with unknown etiology. In 0.5-20 % of patients, extraintestinal lesions in the oral cavity can be presented in forms of orofacial granulomatosis, cobblestone and corrugated oral mucosa, mucosal tags, deep linear ulcerations with hyperplastic folds, pyostomatits vegetans, aphthous ulcers, angular cheilitis, labial/facial edema and gingival erythema/edema. We describe a case of a 28-year-old male who was presented with oral lesions of Crohn´s disease and treatment procedure. The patient was candidate for biologic treatment so dental procedures and preparation of the patient for treatment are described. Good communication and cooperation between the patient's doctor and dentist are important for successful treatment.

  2. Cancer: a single disease with a multitude of manifestions?

    Directory of Open Access Journals (Sweden)

    Grandics Peter

    2003-01-01

    Full Text Available Abstract The relationships of critical nutrients such as plant phenolics, vitamins, minerals and lipids are considered with respect to the incidence of a variety of cancers, and analyzed in terms of how these nutrient deficiencies alter immune function, DNA integrity and cell proliferation. With a significant correlation found between cancer and these nutrient deficiencies, the hypothesis is presented here that nutrition could provide a unifying perception of cancer and recast it as a single disease. This further suggests that a coordinated administration of specific, critical nutrients to cancer patients could lead to the reversal of the disease. It is also proposed that the concurrent presence of a variety of nutritional deficiencies in cancer patients requires a multilevel, systemic approach to this disease as opposed to the single active therapeutic agent approach that is the cornerstone of contemporary research and pharmacology.

  3. Extraintestinal manifestations of inflammatory bowel disease: Do they influence treatment and outcome?

    Institute of Scientific and Technical Information of China (English)

    Fernando Tavarela Veloso

    2011-01-01

    Crohn's disease and ulcerative colitis are chronic inflammatory bowel diseases that often involve organs other than those of the gastrointestinal tract. Immune-related extraintestinal manifestations (EIMs) are usually related to disease activity, but sometimes may take an independent course. Globally, about one third of patients develop these systemic manifestations. Phenotypic classification shows that certain subsets of patients are more susceptible to developing EIMs, which frequently occur simultaneously in the same patient overlapping joints, skin, mouth, and eyes. The clinical spectrum of these manifestations varies from mild transitory to very severe lesions, sometimes more incapacitating than the intestinal disease itself. The great majority of these EIMs accompany the activity of intestinal disease and patients run a higher risk of a severe clinical course. For most of the inflammatory EIMs, the primary therapeutic target remains the bowel. Early aggressive therapy can minimize severe complications and maintenance treatment has the potential to prevent some devastating consequences.

  4. [Ventricular Tachycardia as a First Manifestation of Myotonic Dystrophy].

    Science.gov (United States)

    Mironov, N Yu; Mironova, N A; Sokolov, S F; Mareev, Yu V; Shlevkov, N B; Saidova, M A; Stukalova, O V; Golitsyn, S P

    2015-01-01

    We report a case of bundle-branch reentrant ventricular tachycardia as a first and severe manifestation of myotonic dystrophy. Progressive cardiac conduction disturbances and cardiac arrhythmias are well-known features of myotonic dystrophy, although they are commonly found in late stage of disease in patients with established diagnosis. We review clinical manifestations, diagnostics, management, and prognostic value of cardiac involvement in myotonic dystrophy.

  5. Conceptual Foundations of Systems Biology Explaining Complex Cardiac Diseases.

    Science.gov (United States)

    Louridas, George E; Lourida, Katerina G

    2017-02-21

    Systems biology is an important concept that connects molecular biology and genomics with computing science, mathematics and engineering. An endeavor is made in this paper to associate basic conceptual ideas of systems biology with clinical medicine. Complex cardiac diseases are clinical phenotypes generated by integration of genetic, molecular and environmental factors. Basic concepts of systems biology like network construction, modular thinking, biological constraints (downward biological direction) and emergence (upward biological direction) could be applied to clinical medicine. Especially, in the field of cardiology, these concepts can be used to explain complex clinical cardiac phenotypes like chronic heart failure and coronary artery disease. Cardiac diseases are biological complex entities which like other biological phenomena can be explained by a systems biology approach. The above powerful biological tools of systems biology can explain robustness growth and stability during disease process from modulation to phenotype. The purpose of the present review paper is to implement systems biology strategy and incorporate some conceptual issues raised by this approach into the clinical field of complex cardiac diseases. Cardiac disease process and progression can be addressed by the holistic realistic approach of systems biology in order to define in better terms earlier diagnosis and more effective therapy.

  6. Conceptual Foundations of Systems Biology Explaining Complex Cardiac Diseases

    Directory of Open Access Journals (Sweden)

    George E. Louridas

    2017-02-01

    Full Text Available Systems biology is an important concept that connects molecular biology and genomics with computing science, mathematics and engineering. An endeavor is made in this paper to associate basic conceptual ideas of systems biology with clinical medicine. Complex cardiac diseases are clinical phenotypes generated by integration of genetic, molecular and environmental factors. Basic concepts of systems biology like network construction, modular thinking, biological constraints (downward biological direction and emergence (upward biological direction could be applied to clinical medicine. Especially, in the field of cardiology, these concepts can be used to explain complex clinical cardiac phenotypes like chronic heart failure and coronary artery disease. Cardiac diseases are biological complex entities which like other biological phenomena can be explained by a systems biology approach. The above powerful biological tools of systems biology can explain robustness growth and stability during disease process from modulation to phenotype. The purpose of the present review paper is to implement systems biology strategy and incorporate some conceptual issues raised by this approach into the clinical field of complex cardiac diseases. Cardiac disease process and progression can be addressed by the holistic realistic approach of systems biology in order to define in better terms earlier diagnosis and more effective therapy.

  7. Conceptual Foundations of Systems Biology Explaining Complex Cardiac Diseases

    Science.gov (United States)

    Louridas, George E.; Lourida, Katerina G.

    2017-01-01

    Systems biology is an important concept that connects molecular biology and genomics with computing science, mathematics and engineering. An endeavor is made in this paper to associate basic conceptual ideas of systems biology with clinical medicine. Complex cardiac diseases are clinical phenotypes generated by integration of genetic, molecular and environmental factors. Basic concepts of systems biology like network construction, modular thinking, biological constraints (downward biological direction) and emergence (upward biological direction) could be applied to clinical medicine. Especially, in the field of cardiology, these concepts can be used to explain complex clinical cardiac phenotypes like chronic heart failure and coronary artery disease. Cardiac diseases are biological complex entities which like other biological phenomena can be explained by a systems biology approach. The above powerful biological tools of systems biology can explain robustness growth and stability during disease process from modulation to phenotype. The purpose of the present review paper is to implement systems biology strategy and incorporate some conceptual issues raised by this approach into the clinical field of complex cardiac diseases. Cardiac disease process and progression can be addressed by the holistic realistic approach of systems biology in order to define in better terms earlier diagnosis and more effective therapy. PMID:28230815

  8. Guillain-Barre syndrome: A rare manifestation of Hansen's disease

    National Research Council Canada - National Science Library

    Rakshith, K; Pai, Shivanand; Mittal, Saumya; Misri, Z; Shenoy, Nisha

    2017-01-01

    ... 5 days. The weakness was distal as well as proximal. The patient also turned out to be a case of Hansen's disease. This was detected approximately 2 months before his presentation to the hospital as a result of ulceration of the foot. He was off treatment because of gastric ulcerations. There was no other significant medical history. The pati...

  9. Brain damage in patients with manifest arterial disease

    NARCIS (Netherlands)

    Raamt, Anne Fleur van

    2006-01-01

    In this thesis we assessed whether the risk factors known to affect markers of brain damage in the general population, also effectuate brain damage in patients who already have symptomatic arterial disease. We found that elevated levels of homocysteine were related to slightly lower global cogniti

  10. Major diseases manifesting by vestibular vertigo: Treatment and rehabilitation

    Directory of Open Access Journals (Sweden)

    V. A. Parfenov

    2015-01-01

    Full Text Available Betahistine hydrochloride is the drug of choice for the treatment of vestibular vertigo in the presence of benign paroxysmal positional vertigo, Meniere's disease, and vestibular neuronitis. Effective combination therapy regimens that contain, along with drugs from other pharmacological groups, betahistine hydrochloride that improves blood circulation in the vestibular structures, accelerates vestibular compensation, and prevents recurrent dizzy spells, have been elaborated to treat central vestibular vertigo in migraine-associated dizziness and in acute cerebrovascular accident. Of great importance is a combination of drug therapy and the current rehabilitation methods for vestibular diseases, which contribute to prompter and complete recovery of vestibular function. Biofeedback instrumental rehabilitation techniques using a stabilographic platformare highly effective. Successful treatment depends on the correctness of the established diagnosis. The diagnosis of peripheral and central vestibular vertigo frequently poses challenges. The essential reason for this is physicians’ unawareness about outpatient methods for the diagnosis of major vestibular diseases when the patient is at a doctor. It is important to follow a vestibular system study protocol since the use and correct assessment of diagnostic tests in most cases make it possible to estimate the degree of vestibular analyzer injury and to make an accurate diagnosis. The paper describes the diseases that are the most common causes of vestibular vertigo. The most effective methods for their treatment and current rehabilitation methods are discussed.

  11. Cardiac findings in patients with Behçet's disease: Facts and controversies.

    Science.gov (United States)

    Farouk, Heba; Zayed, Hania Salah; El-Chilali, Karim

    2016-07-01

    Behçet's disease (BD) is a systemic vasculitis of unknown etiology. It is characterized by recurrent oral and genital ulcers, uveitis, and a number of systemic manifestations. Although the disease is recognized worldwide, its prevalence is highly variable. A detailed review and analysis of the worldwide published reports on BD showed that not only the prevalence of the disease but also its cardiac complications differ according to the geographic distribution of the studied population. With the exception of France, Greece, Spain, and Italy, very few reports and studies regarding BD have been published from the western countries. Cardiovascular complications are an important cause of poor outcome in patients with BD. Over the past few years, many case reports and studies have been published, providing more facts about these complications. For example, peculiar echocardiographic findings in patients with aortic valve regurgitation and intracardiac thrombi secondary to BD were recently described. The role of these findings in the initial diagnosis of the disease, however, remains to be evaluated. On the other hand, some reports present contradictory results, especially concerning the left ventricular diastolic function, pathogenesis of coronary artery disease, and proper management of the cardiac complications in BD. Importantly, management of these complications is based mainly on the discretion of the treating physician due to the absence of large controlled studies and clear guidelines. This approach sometimes creates inconsistent data and allows controversies to persist. The review presented here will discuss some of the facts and controversies related to cardiac complications in BD.

  12. Buerger's Disease and Anaesthesia: The Neglected Cardiac Angle

    Directory of Open Access Journals (Sweden)

    Shagun Bhatia Shah

    2015-08-01

    Full Text Available Distal limb amputations and respiratory complications are common in patients with Buerger’s disease. Nicotine in cigarette is arrhythmogenic as it blocks cardiac potassium channels. Preoperative Holter ECG monitoring may be useful if preoperative electrocardiogram is normal. If the patient is undergoing major surgery, preservative free lignocaine & amiodarone infusions and a cardioverter defibrillator should be available for the intraoperative cardiac rhythm disturbances.

  13. Suppression of NLRP3 Inflammasome Activation Ameliorates Chronic Kidney Disease-Induced Cardiac Fibrosis and Diastolic Dysfunction

    Science.gov (United States)

    Bugyei-Twum, Antoinette; Abadeh, Armin; Thai, Kerri; Zhang, Yanling; Mitchell, Melissa; Kabir, Golam; Connelly, Kim A.

    2016-01-01

    Cardiac fibrosis is a common finding in patients with chronic kidney disease. Here, we investigate the cardio-renal effects of theracurmin, a novel formulation of the polyphenolic compound curcumin, in a rat model of chronic kidney disease. Briefly, Sprague-Dawley rats were randomized to undergo sham or subtotal nephrectomy (SNx) surgery. At 3 weeks post surgery, SNx animals were further randomized to received theracurmin via once daily oral gavage or vehicle for 5 consecutive weeks. At 8 weeks post surgery, cardiac function was assessed via echocardiography and pressure volume loop analysis, followed by LV and renal tissue collection for analysis. SNx animals developed key hallmarks of renal injury including hypertension, proteinuria, elevated blood urea nitrogen, and glomerulosclerosis. Renal injury in SNx animals was also associated with significant diastolic dysfunction, macrophage infiltration, and cardiac NLRP3 inflammasome activation. Treatment of SNx animals with theracurmin improved structural and functional manifestations of cardiac injury associated with renal failure and also attenuated cardiac NLRP3 inflammasome activation and mature IL-1β release. Taken together, our findings suggest a significant role for the NLRP3 inflammasome in renal injury-induced cardiac dysfunction and presents inflammasome attenuation as a unique strategy to prevent adverse cardiac remodeling in the setting of chronic kidney disease. PMID:28000751

  14. Genetic and antigenic heterogeneity among feline calicivirus isolates from distinct disease manifestations.

    Science.gov (United States)

    Geissler, K; Schneider, K; Platzer, G; Truyen, B; Kaaden, O R; Truyen, U

    1997-05-01

    The capsid protein genes of five feline calicivirus (FCV) isolates associated with different disease manifestations were cloned and sequenced. The viruses represented two recent isolates from cats with chronic stomatitis, one recent isolate from a cat with acute stomatitis, one recent isolate each from a cat with acute respiratory symptoms and the classical limping syndrome strain FCV-2280. The amino acid sequences were compared with eight other published sequences and analyzed for their relationships. Phylogenetic analysis of the complete capsid protein sequences or of known antigenic regions of that protein (hypervariable regions A and E) did not group the isolates of different disease manifestations in distinct subclusters. Monoclonal antibodies (MAbs) generated against either a chronic stomatitis isolate or a recent isolate associated with respiratory symptoms were tested against a panel of 11 recent isolates and four "classical' FCV strains, covering all known disease associations. With those MAbs no obvious clustering with respect to disease manifestation could be seen. Four specific sera prepared in rabbits against our prototype isolates also failed to cluster those isolates according to the disease manifestations when examined in neutralization tests. From these antigenic and genetic analyses of the capsid protein the hypothesis of the existence of biotypes of FCV responsible for distinct disease manifestations could not be confirmed.

  15. Major diseases manifesting by vestibular vertigo: Treatment and rehabilitation

    OpenAIRE

    2015-01-01

    Betahistine hydrochloride is the drug of choice for the treatment of vestibular vertigo in the presence of benign paroxysmal positional vertigo, Meniere's disease, and vestibular neuronitis. Effective combination therapy regimens that contain, along with drugs from other pharmacological groups, betahistine hydrochloride that improves blood circulation in the vestibular structures, accelerates vestibular compensation, and prevents recurrent dizzy spells, have been elaborated to treat central v...

  16. Orthotropic liver transplantation for intractable neurological manifestations of Wilson's disease.

    Science.gov (United States)

    Sutariya, Vaibhav K; Tank, Anad H; Modi, Pranjal R

    2015-01-01

    Wilson's disease (WD) is an inherited autosomal recessive disorder characterized by copper accumulation and toxicity, affecting mainly the liver and brain. Orthotopic liver transplantation (OLT) is the definitive therapy for patients with WD. Acute fulminant hepatic failure and decompensated cirrhosis are well-established indications for OLT. Patients with severe neurologic impairment can also be benefited by OLT. Here, we present a patient who underwent OLT for isolated neurological WD.

  17. MR manifestation of Legg-Calve'-Perthes disease

    Energy Technology Data Exchange (ETDEWEB)

    Kook, Shin Ho; Kang, Heung Sik; Kim, In One; Yeon, Kyung Mo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1992-03-15

    To evaluate the role of MR in the examination of Legg-Calve'-Perthes(LCP) disease, we retrospective analysed the signal intensity of the osseous lesion, thickness of the articular cartilage, change of surrounding soft tissue, joint effusion and femoral head containment in 32 cases of LCP diseases in 27 patients. The bony lesion was limited within the epiphysis in 19 case(59%) and extended to the physis and myopathies in 13 cases(41%). The epiphyseal lesion showed homogeneous(26/32) or heterogeneous(6/32) low signal intensity(SI) on T1-weighted images (T1WI), and homogeneous(16/28) or heterogeneous(12/28) low SI on T2-weighted images(T2WI). The metaphyseal lesion showed low SI(13/13) on T1WI, and low(9/11) or iso(3/11) SI on T2WI. Associated metaphseal cyst showed low SI on T1WI and high SI on T2 WI. An althought physeal involvement(13/32) was indistinct, the lesion showed increased SI on both T1 and T2WI. Thickening of articular cartilage(32/32), swelling of the ligamentum teres(7/32), synovial hypertrophy(7/32) and joint effusion(27/32) were demonstrated. Lateral subluxation of the femoral head on coronal image indicated incongruity of the femoral head in 25 case(78%). We conclude that MR is an useful tool for the diagnosis as well as treatment planning in LCP disease.

  18. Are gastric hyperplastic polyps an additional manifestation in celiac disease?

    Science.gov (United States)

    Dore, Maria Pina; Pes, Giovanni Mario; Rocchi, Chiara; Loria, Maria Francesca; Soro, Sara; Bassotti, Gabrio

    2017-01-01

    Abstract Gastric polyps are frequently reported in patients undergoing upper endoscopic procedures. In this retrospective study, the association between hyperplastic polyps and celiac disease in Northern Sardinia was estimated. Age, gender, body mass index, and medications taken in the 2 preceding months, including proton-pump inhibitors (PPIs), H2 receptor blockers (anti-H2), Helicobacter pylori status, endoscopic findings, and histology from charts of patients undergoing esophago-gastro-duodenoscopy were reviewed. Polyps were classified as hyperplastic, fundic gland, inflammatory, and adenomatous. 3.7% (423/11379) patients had celiac disease. Prevalence of gastric polyps was 4.2% (3.8% among celiac vs 4.2% nonceliac patients). Inflammatory polyp was the most common histotype (55.8% and 56.2%) followed by fundic gland polyps (31.4% and 43.7%), hyperplastic (8.7% and 0%), and adenomas, in celiac and nonceliac patients, respectively. Fundic gland polyps were more common in PPI users (odds ratio: 4.06) than in nonusers (2.65, P = 0.001) among celiac and nonceliac patients. Age older than 50, female gender, esophago-gastro-duodenoscopy year, and PPI use were associated with the presence of polyps, whereas active H pylori infection was not. Gastric polyps were common in Sardinian patients undergoing esophago-gastro-duodenoscopy. However, the previously reported association between hyperplastic polyps and celiac disease was not confirmed in our study. PMID:28151870

  19. Hypotheses, rationale, design, and methods for prognostic evaluation of cardiac biomarker elevation after percutaneous and surgical revascularization in the absence of manifest myocardial infarction. A comparative analysis of biomarkers and cardiac magnetic resonance. The MASS-V Trial

    Directory of Open Access Journals (Sweden)

    Hueb Whady

    2012-08-01

    Full Text Available Abstract Background Although the release of cardiac biomarkers after percutaneous (PCI or surgical revascularization (CABG is common, its prognostic significance is not known. Questions remain about the mechanisms and degree of correlation between the release, the volume of myocardial tissue loss, and the long-term significance. Delayed-enhancement of cardiac magnetic resonance (CMR consistently quantifies areas of irreversible myocardial injury. To investigate the quantitative relationship between irreversible injury and cardiac biomarkers, we will evaluate the extent of irreversible injury in patients undergoing PCI and CABG and relate it to postprocedural modifications in cardiac biomarkers and long-term prognosis. Methods/Design The study will include 150 patients with multivessel coronary artery disease (CAD with left ventricle ejection fraction (LVEF and a formal indication for CABG; 50 patients will undergo CABG with cardiopulmonary bypass (CPB; 50 patients with the same arterial and ventricular condition indicated for myocardial revascularization will undergo CABG without CPB; and another 50 patients with CAD and preserved ventricular function will undergo PCI using stents. All patients will undergo CMR before and after surgery or PCI. We will also evaluate the release of cardiac markers of necrosis immediately before and after each procedure. Primary outcome considered is overall death in a 5-year follow-up. Secondary outcomes are levels of CK-MB isoenzyme and I-Troponin in association with presence of myocardial fibrosis and systolic left ventricle dysfunction assessed by CMR. Discussion The MASS-V Trial aims to establish reliable values for parameters of enzyme markers of myocardial necrosis in the absence of manifest myocardial infarction after mechanical interventions. The establishments of these indices have diagnostic value and clinical prognosis and therefore require relevant and different therapeutic measures. In daily practice

  20. THE CLINICAL MANIFESTATIONS OF CALCIUM PYROPHOSPHATE CRYSTAL DEPOSITION DISEASE

    Directory of Open Access Journals (Sweden)

    F. M. Kudaeva

    2014-01-01

    Full Text Available Objective: to provide the clinical characteristics of joint injury in patients with calcium pyrophosphate crystal (CPC deposition disease.Subjects and methods. The trial enrolled 68 patients (43 women, 25 men with a verified diagnosis of CPC deposition disease. Their mean age was 60.2±11.8 years and disease duration was 7.5±6.4 years. Examination revealed the presence of arthritis and arthralgias. Polarizing microscopy with an Olympus CX31-P compensator was used to detectcrystals in synovial fluid. X-ray study of the knee joints was performed in the anteroposterior and lateral projections and that of the hand joints was in the frontal projection, Ultrasonography (USG of the knee and wrist joints was done using a GE Voluson-I transducer.Results. A concurrence of arthritis and arthralgias was noted in 37 (54% patients; 24 (36% patients had arthralgias only; 7 (10% had arthritis only. Arthritis affecting the knee, wrist, ankle, and first metacarpophalangeal joints was observed in 53, 15, 12, and 6% of cases, respectively. There was acute arthritis in 18% of the patients and chronic arthritis in 39%; the rate of CPC osteoarthrosis was 43%. Joint USG diagnosed knee and wrist joint chondrocalcinosis in 94 and 56% of the patients, respectively. USG could reveal asymptomatic wrist joint chondrocalcinosis significantly more often (in 56 and 17% of the patients, respectively; p = 0.008. Besides, USG could visualize synovitis in the knee joints in 88% of the patients with isolated arthralgias in them and synovitis in the wrinkle joints in 52% of the patients without clinical signs of inflammation in them.Conclusion. Osteoarthrosis is the most common form of CPC deposition disease. Knee joints in this disease are most frequently involved. Joint USG is of more informative value in detecting chondrocalcinosis than X-ray study; USG can also identify synovitis in the intact joints.

  1. Hepatitis C virus as a multifaceted disease: a simple and updated approach for extrahepatic manifestations of hepatitis C virus infection.

    Science.gov (United States)

    Khattab, Mahmoud Aboelneen; Eslam, Mohammed; Alavian, Seyed Moayed

    2010-01-01

    Hepatitis C virus infection is an emerging disease and a public health problem in the world. There are accumulating data regarding extra hepatic manifestation of HCV, such as rheumatologic manifestations, endocrine, hematologic, dermatologic, renal, neurologic, and systemic manifestations. The therapy of them needs more attention to some exacerbations of extra hepatic manifestation and in some situation it needs different approaches. In this review we tried to provide latest evidence for extra hepatic manifestation and management of them.

  2. Guideline for appropriate use of cardiac CT in heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Jin; Hong, Yoo Jin [Dept. of Radiology, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Yong, Hwan Seok [Dept. of Radiology, Korea University Guro Hospital, Korea University College of Medicine, Seoul (Korea, Republic of); Kim, Sung Mok [Dept. of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Kim, Jeong A [Dept. of Radiology, Ilsan Paik Hospital, Inje University College of Medicine, Goyang (Korea, Republic of); Yang, Dong Hyun [Dept. of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2014-02-15

    Heart disease is one of the leading causes of deaths in Korea, along with malignant neoplasms and cerebrovascular diseases. The proper diagnosis and management for patients with suspected heart diseases should be warranted for the public health care. Advances in CT technology have allowed detailed images of the heart to be obtained, which enable evaluations not only of the coronary arteries but also of other cardiac structures. Currently, the latest multi-detector CT machines are widespread around Korea. The appropriate use of cardiac CT may lead to improvements of the physicians' medical performances and to reduce medical costs which eventually contribute to promotions of public health. However, until now, there has been no guidelines regarding the appropriate use of cardiac CT in Korea. We intend to provide guidelines for the appropriate use of cardiac CT in heart diseases based on scientific data. The purpose of this guideline is to assist the clinicians and other health professionals when using cardiac CT for diagnosis and treatments of heart diseases.

  3. Longitudinal Change in Gait and Motor Function in Pre-manifest Huntington’s Disease

    OpenAIRE

    Rao, Ashwini K; Mazzoni, Pietro; Wasserman, Paula; Marder, Karen

    2011-01-01

    The purpose of this study was to examine longitudinal change in gait and motor function in pre-manifest Huntington’s disease (HD). We examined ten pre-manifest subjects at baseline, one and five years. Quantitative gait data were collected with an electronic mat (GAITRite®). We analyzed measures related to speed (velocity, step length, cadence), asymmetry (step length difference), dynamic balance (percent time in double support, support base) and variability in stride length and swing time. M...

  4. High-Risk Cardiac Disease in Pregnancy Part I

    NARCIS (Netherlands)

    Elkayam, Uri; Goland, Sorel; Pieper, Petronella G.; Silverside, Candice K.

    2016-01-01

    The incidence of pregnancy in women with cardiovascular disease is rising, primarily due to the increased number of women with congenital heart disease reaching childbearing age and the changing demographics associated with advancing maternal age. Although most cardiac conditions are well tolerated

  5. High-Risk Cardiac Disease in Pregnancy Part I

    NARCIS (Netherlands)

    Elkayam, Uri; Goland, Sorel; Pieper, Petronella G.; Silverside, Candice K.

    2016-01-01

    The incidence of pregnancy in women with cardiovascular disease is rising, primarily due to the increased number of women with congenital heart disease reaching childbearing age and the changing demographics associated with advancing maternal age. Although most cardiac conditions are well tolerated

  6. Cerebellar ataxia as the presenting manifestation of Lyme disease.

    Science.gov (United States)

    Arav-Boger, Ravit; Crawford, Thomas; Steere, Allen C; Halsey, Neal A

    2002-04-01

    A 7-year-old boy from suburban Baltimore who presented with cerebellar ataxia and headaches was found by magnetic resonance imaging to have multiple cerebellar enhancing lesions. He had no history of tick exposure. He was initially treated with steroids for presumptive postinfectious encephalitis. Lyme disease was diagnosed 10 weeks later after arthritis developed. Testing of the cerebrospinal fluid obtained at the time cerebellar ataxia was diagnosed revealed intrathecal antibody production to Borrelia burgdorferi. Treatment with intravenous antibiotics led to rapid resolution of persistent cerebellar findings.

  7. [Necrotizing periodontal disease: a manifestation of systemic disorders].

    Science.gov (United States)

    Bascones-Martínez, Antonio; Escribano-Bermejo, Marta

    2005-11-19

    Necrotizing periodontal disease (NPD) is an infection characterized by gingival necrosis presenting as "punched-out" papillae, with gingival bleeding, and pain. Prevotella intermedia and spirochetes have been associated with the gingival lesions. Predisposing factors may include emotional stress, immunosuppression, especially secondary to human immunodeficiency virus (HIV) infection, cigarette smoking, poor diet and pre-existing gingivitis. During the last few years, diagnosis of NPD has became more important not only because of its contribution to the appearance of clinical attachment loss and gingival sequelae, but also because it has been revealed as a marker for immune deterioration in HIV-seropositive patients.

  8. Atypical Cutaneous Manifestations in Adult Onset Still’s Disease

    Directory of Open Access Journals (Sweden)

    Champa Nataraja

    2016-01-01

    Full Text Available Adult Onset Still’s Disease (AOSD, an adult variant of systemic onset juvenile idiopathic arthritis, is a rare systemic inflammatory disorder of unknown aetiology. The rarity of this disease is associated with low index of suspicion and delayed diagnosis in patients suffering from it and in the presence of atypical features the diagnosis can be further challenging. This is a case report on a 24-year-old woman, who was a diagnostic dilemma for 2 years due to the nonspecific symptoms of recurrent fever, generalized maculopapular persistent pruritic and tender rash, and polyarthralgia. She was initially diagnosed as leukocytoclastic vasculitis on a skin biopsy and was managed by a dermatologist with various medications including NSAIDs, hydroxychloroquine, dapsone, colchicine, cyclosporine, and high doses of oral steroids with minimal response. Subsequently, she has had multiple admissions with similar symptoms with raised inflammatory markers and negative septic workup. On one occasion, her iron study revealed hyperferritinaemia which led to the suspicion of AOSD. Once the rheumatic fever and infectious, malignant, autoimmune, and lymphoproliferative disorders were excluded, she was diagnosed as probable AOSD and managed successfully with IL-1 (interleukin-1 receptor antagonist, Anakinra, with remarkable and lasting response both clinically and biochemically.

  9. EMPIRIC THERAPY IN OTOLARYNGOLOGIC MANIFESTATIONS OF GASTROESOPHAGEAL REFLUX DISEASE

    Directory of Open Access Journals (Sweden)

    M. Mohammadi

    2005-04-01

    Full Text Available The review of literature shows that a strong relationship exists between the symptoms of otolaryngologic diseases and gastroesophageal reflux disease (GERD. It is commonly observed that an extended physical examination is needed to determine the occurrence of GERD. This non-randomized,prospective quasi-experimental study was performed to clinically verify the relationship between otolaryngologic symptoms and GERD and to show that a search for GERD is necessary under conditions that patients do not respond to initial routine treatment for otolaryngologic symptoms. Extended physical examination of patients who had been referred to an Ear, Nose and throat (ENThospital revealed that GERD-related laryngeal signs were present in 55 patients. Otolaryngologic symptoms detected in decreasing order of occurrence were posterior nasal drip, chronic pharyngitis, chronic cough, hoarseness, ear pain, chronic throat clearing and pruritus in the ear. Furthermore, 66% of the patients had gastrointestinal symptoms that included heartburn, dysphagia, odynophagia, aspiration, globus hystericus, dyspepsia and foreign body sensation. Signs observed during the physical examination were posterior pharyngitis, granular pharyngitis, inflamed arytenoids, contact granuloma, and pachyderma laryngitis. We administered proton pump inhibitor to all patients and recommended to change their life style. The follow up program was a 6-month period. Only 53 patients showed up for the follow up. The overall response rate to the therapeutic regimen was 83%. In treating otolaryngologic patients, especially those who are resistant to routine treatments, a careful extended physical examination including an indirect laryngoscopy for diagnosis of GERD is recommended.

  10. Anxiety in Patients with Cardiac Disease

    Science.gov (United States)

    2005-01-01

    1997;96:1835- 1842. 43. Tavazzi L, Zotti AM, Mazzuero G. Acute pulmonary edema provoked by psychologic stress: report of two cases. Cardiology. 1987;74...Circulation. 1997;96:1835- 1842. 43. Tavazzi L, Zotti AM, Mazzuero G. Acute pulmonary edema provoked by psychologic stress: report of two cases. Cardiology...De Jong MJ. Cardiogenic shock. Am JNurs. 1997;97(6):40-41. 1997 De Jong M.J, Morton PG. Control of vascular complications after cardiac catheterization

  11. Persistent increase in cardiac troponin I in Fabry disease: a case report

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    Schneider Christian

    2011-01-01

    Full Text Available Abstract Background Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A. In FD an elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI has been reported in case of clinical manifestation suggestive of myocardial ischemia. In diagnosing acute myocardial infarction cTNI is considered the most reliable parameter. Case Presentation In the referred case we present a 59 years old female patient with the diagnosis of FD presenting with persistently increased cTNI level (lowest value 0.46 ng/ml, highest value 0.69 ng/ml; normal range Conclusions Our case report demonstrates a persistent cTNI release in FD with cardiac involvement. Proving the persistence in a symptom free interval, it might be related to a direct damage of myocytes. In FD cTNI could serve as a beneficial long term parameter providing new perspectives for screening strategies.

  12. Parkinson disease: systemic and orofacial manifestations, medical and dental management.

    Science.gov (United States)

    Friedlander, Arthur H; Mahler, Michael; Norman, Keith M; Ettinger, Ronald L

    2009-06-01

    More than 1.5 million Americans have Parkinson disease (PD), and this figure is expected to rise as the population ages. However, the dental literature offers little information about the illness. The authors conducted a MEDLINE search using the key terms "Parkinson's disease," "medical management" and "dentistry." They selected contemporaneous articles published in peer-reviewed journals and gave preference to articles reporting randomized controlled trials. PD is a progressive neurodegenerative disorder caused by loss of dopaminergic and nondopaminergic neurons in the brain. These deficits result in tremor, slowness of movement, rigidity, postural instability and autonomic and behavioral dysfunction. Treatment consists of administering medications that replace dopamine, stimulate dopamine receptors and modulate other neurotransmitter systems. Oral health may decline because of tremors, muscle rigidity and cognitive deficits. The dentist should consult with the patient's physician to establish the patient's competence to provide informed consent and to determine the presence of comorbid illnesses. Scheduling short morning appointments that begin 90 minutes after administration of PD medication enhances the patient's ability to cooperate with care. Inclination of the dental chair at 45 degrees, placement of a bite prop, use of a rubber dam and high-volume oral evacuation enhance airway protection. To avoid adverse drug interactions with levodopa and entacapone, the dentist should limit administration of local anesthetic agents to three cartridges of 2 percent lidocaine with 1:100,000 epinephrine per half hour, and patients receiving selegiline should not be given agents containing epinephrine or levonordefrin. The dentist should instruct the patient and the caregiver in good oral hygiene techniques.

  13. Depression and Cardiac Disease: Epidemiology, Mechanisms, and Diagnosis

    Directory of Open Access Journals (Sweden)

    Jeff C. Huffman

    2013-01-01

    Full Text Available In patients with cardiovascular disease (CVD, depression is common, persistent, and associated with worse health-related quality of life, recurrent cardiac events, and mortality. Both physiological and behavioral factors—including endothelial dysfunction, platelet abnormalities, inflammation, autonomic nervous system dysfunction, and reduced engagement in health-promoting activities—may link depression with adverse cardiac outcomes. Because of the potential impact of depression on quality of life and cardiac outcomes, the American Heart Association has recommended routine depression screening of all cardiac patients with the 2- and 9-item Patient Health Questionnaires. However, despite the availability of these easy-to-use screening tools and effective treatments, depression is underrecognized and undertreated in patients with CVD. In this paper, we review the literature on epidemiology, phenomenology, comorbid conditions, and risk factors for depression in cardiac disease. We outline the associations between depression and cardiac outcomes, as well as the mechanisms that may mediate these links. Finally, we discuss the evidence for and against routine depression screening in patients with CVD and make specific recommendations for when and how to assess for depression in this high-risk population.

  14. Unusual Manifestations of Monoclonal Gammopathy: I. Ocular Disease

    Directory of Open Access Journals (Sweden)

    Sophia R. Balderman

    2015-07-01

    Full Text Available Essential monoclonal gammopathy is usually an asymptomatic condition, the characteristics of which have been defined over approximately 70 years of study. It has a known population-attributable risk of undergoing clonal evolution to a progressive, symptomatic B-cell neoplasm. In a very small fraction of patients, the monoclonal immunoglobulin has biophysical characteristics that can lead to tissue deposition syndrome (e.g. Fanconi renal syndrome or, by chance, have characteristics of an autoantibody that may inactivate critical proteins (e.g. acquired von Willebrand disease. In this report, we describe the very uncommon forms of ocular injury that may accompany essential monoclonal gammopathy, which include crystalline keratopathy, crystal-storing histiocytosis, hypercupremic keratopathy, and maculopathy. The first three syndromes result from uncommon physicochemical alterations of the monoclonal immunoglobulin that favor crystallization or exaggerated copper binding. The last-mentioned syndrome is of uncertain pathogenesis. These syndromes may result in decreased visual acuity. These ocular findings may lead, also, to the diagnosis of monoclonal gammopathy.

  15. Celiac disease manifested by polyneuropathy and swollen ankles

    Institute of Scientific and Technical Information of China (English)

    Zlatko Djuric; Borislav Kamenov; Vuka Katic

    2007-01-01

    A 27-year-old male started to have his ankles swollen during his military service. He was examined at a military hospital where electromyoneurography showed the signs of distal sensory-motor polyneuropathy with axon demyelinization and weak myopathic changes,whereas histopathological examination of gastrocnemius muscle biopsy revealed some mild and nonspecific myopathy. Besides, he was found to have subcutaneous ankle tissue edemas and hypertransaminasemia. Due to these reasons, he was dismissed from the military service and examined at another hospital where bone osteodensitometry revealed low bone mineral density of the spine. However, his medical problems were not resolved and after the second discharge from hospital he was desperately seeing doctors from time to time. Finally, at our institution he was shown to have celiac disease (CD) by positive serology (antitissue transglutaminase and antiendomysial antibodies) and small bowel mucosal histopathological examination,which showed total small bowel villous atrophy. Three months after the initiation of gluten-free diet, his ankle edema disappeared, electromyoneurographic signs of polyneuropathy improved and liver aminotransferases normalized. Good knowledge of CD extraintestinal signs and serologic screening are essential for early CD recognition and therapy.

  16. Clinical manifestations of the anti-IgLON5 disease.

    Science.gov (United States)

    Gaig, Carles; Graus, Francesc; Compta, Yarko; Högl, Birgit; Bataller, Luis; Brüggemann, Norbert; Giordana, Caroline; Heidbreder, Anna; Kotschet, Katya; Lewerenz, Jan; Macher, Stefan; Martí, Maria J; Montojo, Teresa; Pérez-Pérez, Jesus; Puertas, Inmaculada; Seitz, Caspar; Simabukuro, Mateus; Téllez, Nieves; Wandinger, Klaus-Peter; Iranzo, Alex; Ercilla, Guadalupe; Sabater, Lidia; Santamaría, Joan; Dalmau, Josep

    2017-05-02

    To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies. This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques. Patients' median age was 64 years (range 46-83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with parasomnia and sleep breathing difficulty in 8 (36%) patients; (2) a bulbar syndrome including dysphagia, sialorrhea, stridor, or acute respiratory insufficiency in 6 (27%); (3) a syndrome resembling progressive supranuclear palsy (PSP-like) in 5 (23%); and (4) cognitive decline with or without chorea in 3 (14%). All patients eventually developed parasomnia, sleep apnea, insomnia, or excessive daytime sleepiness. HLA-DRB1*10:01 and HLA-DQB1*05:01 were positive in 13/15 (87%) patients; the DRB1*10:01 allele was 36 times more prevalent than in the general population. Among 16 patients with paired serum and CSF samples, 14 had IgLON5 antibodies in both, and 2 only in serum (both had a PSP-like syndrome). Twenty of 21 patients had IgG1 and IgG4 antibodies; the latter predominated in 16. Patients with IgLON5 antibodies develop a characteristic sleep disorder preceded or accompanied by bulbar symptoms, gait abnormalities, oculomotor problems, and, less frequently, cognitive decline. IgG4 subclass antibodies predominate over IgG1; we confirm a strong association with the HLA-DRB1*10:01 allele. © 2017 American Academy of Neurology.

  17. Study on clinical symptoms in canine cardiac diseases

    Directory of Open Access Journals (Sweden)

    F. Karlette Anne

    Full Text Available Cardiac diseases in canines are an extensively studied phenomenon all over the world but meagre information has been reported in India. Certain problems, including historical, physical, and laboratory abnormalities, are associated with cardiovascular or pulmonary disease. In India however, the recognition of canine cardiac diseases has been delayed, and ignored on account of lack of awareness and knowledge by the owner and inadequate diagnostic facility to a field veterinarian. Considering the above facts, the present study was undertaken in Gujarat to survey the prevalence of common cardiac diseases in hospital population of dogs along with the clinical symptoms which often goes undetected due to lack of proper diagnostic techniques to be implied and the most forms of heart disease may be present for many years before any evidence of failure develops. In the present study most of the clinical cases of cardiac diseases were presented with a history of nocturnal coughing (seven cases; 2.55%, exercise intolerance (five cases; 1.82%, partial or complete anorexia (five cases; 1.82%, swelling in abdominal area (four cases; 1.45%, dullness and depression (two cases; 0.72%, cachexia and hepatojugular pulsation (one case each; 0.36% each at times. [Vet World 2009; 2(8.000: 307-309

  18. Advances in cardiac magnetic resonance imaging of congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Driessen, Mieke M.P. [University of Utrecht, University Medical Center Utrecht, Department of Radiology, PO Box 85500, Utrecht (Netherlands); University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); The Interuniversity Cardiology Institute of the Netherlands (ICIN) - Netherlands Heart Institute, PO Box 19258, Utrecht (Netherlands); Breur, Johannes M.P.J. [Wilhelmina Children' s Hospital, University Medical Center Utrecht, Department of Pediatric Cardiology, PO Box 85500, Utrecht (Netherlands); Budde, Ricardo P.J.; Oorschot, Joep W.M. van; Leiner, Tim [University of Utrecht, University Medical Center Utrecht, Department of Radiology, PO Box 85500, Utrecht (Netherlands); Kimmenade, Roland R.J. van; Sieswerda, Gertjan Tj [University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); Meijboom, Folkert J. [University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); Wilhelmina Children' s Hospital, University Medical Center Utrecht, Department of Pediatric Cardiology, PO Box 85500, Utrecht (Netherlands)

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advances have enabled faster and more robust cardiovascular magnetic resonance with improved image quality and spatial as well as temporal resolution. This review aims to provide an overview of advances in cardiovascular magnetic resonance hardware and acquisition techniques relevant to both pediatric and adult patients with congenital heart disease and discusses the techniques used to assess function, anatomy, flow and tissue characterization. (orig.)

  19. Cardiac involvement in adults with Pompe disease

    NARCIS (Netherlands)

    O.I.I. Soliman (Osama Ibrahim Ibrahim); N.A.M.E. van der Beek (Nadine); P.A. van Doorn (Pieter); W.B. Vletter (Wim); A. Nemes (Attila); B.M. van Dalen (Bas); F.J. ten Cate (Folkert); A.T. van der Ploeg (Ans); M.L. Geleijnse (Marcel)

    2008-01-01

    textabstractBackground. Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid α- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in t

  20. Cardiac involvement in adults with Pompe disease

    NARCIS (Netherlands)

    O.I.I. Soliman (Osama Ibrahim Ibrahim); N.A.M.E. van der Beek (Nadine); P.A. van Doorn (Pieter); W.B. Vletter (Wim); A. Nemes (Attila); B.M. van Dalen (Bas); F.J. ten Cate (Folkert); A.T. van der Ploeg (Ans); M.L. Geleijnse (Marcel)

    2008-01-01

    textabstractBackground. Glycogen storage disease type II or Pompe disease is a neuromuscular disorder caused by deficiency of lysosomal acid α- glucosidase. Classic infantile Pompe disease results in massive left ventricular (LV) hypertrophy and failure. Although Pompe disease is often included in

  1. Haemolytic anaemia as first manifestation of Wilson's disease: a report of two cases.

    Science.gov (United States)

    Santra, Gouranga; Paul, Rudrajit; Choudhury, Partha Sarathi; Ghosh, Sumit Kr; De, Dibyendu; Das, Shubhabrata

    2014-10-01

    Wilson's disease can have different manifestations like jaundice, cirrhosis of liver, extrapyramidal symptoms and dementia. Haemolytic anaemia may occur but it is commonly associated with florid manifestation of liver disease. Sometimes, liver cell necrosis can release huge free copper ions in blood, giving rise to oxidant damage to erythrocytes. Oxidative damage to cell membrane, haemoglobin and erythrocyte metabolism causes haemolytic crisis. In some cases, liver involvement is subclinical, but nonetheless, free copper is released from necrosed hepatocytes and causes oxidative damage to erythrocytes.We had two cases of Wilson's disease with initial presentation as severe haemolytic anaemia and no other clinical feature suggestive of Wilson's disease was present. In unclear cause of haemolytic anaemia, especially in adolescents or young adults, Wilson's disease should be considered. As Wilson disease is rare and its initial presentation with haemolytic anaemia is rarer, high level of suspicion is required to diagnose it.

  2. Haemodynamic findings on cardiac CT in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea, Republic of)

    2011-02-15

    In patients with congenital heart disease, haemodynamic findings demonstrated on cardiac CT might provide useful hints for understanding the haemodynamics of cardiac defects. In contrast to morphological features depicted on cardiac CT, such haemodynamic findings on cardiac CT have not been comprehensively reviewed in patients with congenital heart disease. This article describes normal haemodynamic phenomena of cardiovascular structures and various abnormal haemodynamic findings with their mechanisms and clinical significance on cardiac CT in patients with congenital heart disease. (orig.)

  3. Pulmonary Nodules as an Initial Manifestation of Behçet's Disease

    DEFF Research Database (Denmark)

    Malekmohammad, M; Emamifar, A

    2014-01-01

    Behçet's disease (BD) is a systemic vasculopathy, characterized by recurrent oral aphthae, genital ulcers, uveitis, and skin lesions. Although vascular involvement, including venous and arteries of any size, is a usual manifestation, cases with pulmonary thrombosis as the initial symptom are not ......Behçet's disease (BD) is a systemic vasculopathy, characterized by recurrent oral aphthae, genital ulcers, uveitis, and skin lesions. Although vascular involvement, including venous and arteries of any size, is a usual manifestation, cases with pulmonary thrombosis as the initial symptom...

  4. Association of extraintestinal manifestations and anaemia with disease outcomes in patients with inflammatory bowel disease.

    Science.gov (United States)

    Vegh, Zsuzsanna; Kurti, Zsuzsanna; Gonczi, Lorant; Golovics, Petra Anna; Lovasz, Barbara Dorottya; Szita, Istvan; Balogh, Mihaly; Pandur, Tunde; Vavricka, Stephan R; Rogler, Gerhard; Lakatos, Laszlo; Lakatos, Peter Laszlo

    2016-07-01

    The association between extraintestinal manifestations (EIMs) and disease activity suggest a common pathogenetic link with inflammatory bowel disease (IBD). We report on the association of EIMs and anaemia with long-term disease outcomes, including treatment steps, hospitalization, and surgery in the prospective population-based IBD inception cohort from Veszprem province. Data of 678 incident IBD patients (Crohn's disease/ulcerative colitis(CD/UC): 331/347) diagnosed from 1st January 2000 to 31st December 2012 were analyzed (CD: m/f: 176/155, median age at diagnosis: 28, IQR: 21-40 years, disease duration: 6, IQR: 2-9 years; UC: m/f: 200/147, median age at diagnosis: 36, IQR: 26-50 years, duration: 7, IQR: 4-10 years). EIMs were present in 30% of the CD and 17.3% of the UC patients. In CD, female gender (p = 0.02) need for steroid (p  < 0.001) and azathioprine (AZA) (p = 0.02), while in UC, young age at onset (p = 0.03), extensive disease (p = 0.003), female gender (p = 0.07), need for steroids (p < 0.001) and AZA (p = 0.004) and need for IBD-related hospitalization (p = 0.01) were associated with the presence of EIMs. Anaemia was present in 56.7% of the CD and 30.2% of the UC patients. In both CD and UC anaemia was associated with age at onset (pCD = 0.001, pUC = 0.04), disease location/extent (pCD = 0.02, pUC < 0.001), steroid and AZA use (for both pCD,UC < 0.001), need for surgery/colectomy (pCD < 0.001, pUC = 0.002) and hospitalization (pCD = 0.004, pUC < 0.001) and in CD, it was associated with anti TNF therapy(p = 0.002). The presence of EIMs was associated with disease phenotype in UC and with treatment strategy in both CD and UC. Additionally, anaemia was associated with hospitalization and surgery in both CD and UC, suggesting that EIMs and anaemia may be helpful in stratifying disease severity in IBD.

  5. Early manifestation of alteration in cardiac function in dystrophin deficient mdx mouse using 3D CMR tagging

    Directory of Open Access Journals (Sweden)

    Zhong Jia

    2009-10-01

    Full Text Available Abstract Background Duchenne muscular dystrophy (DMD is caused by the absence of the cytoskeletal protein, dystrophin. In DMD patients, dilated cardiomyopathy leading to heart failure may occur during adolescence. However, early cardiac dysfunction is frequently undetected due to physical inactivity and generalized debilitation. The objective of this study is to determine the time course of cardiac functional alterations in mdx mouse, a mouse model of DMD, by evaluating regional ventricular function with CMR tagging. Methods In vivo myocardial function was evaluated by 3D CMR tagging in mdx mice at early (2 months, middle (7 months and late (10 months stages of disease development. Global cardiac function, regional myocardial wall strains, and ventricular torsion were quantified. Myocardial lesions were assessed with Masson's trichrome staining. Results Global contractile indexes were similar between mdx and C57BL/6 mice in each age group. Histology analysis showed that young mdx mice were free of myocardial lesions. Interstitial fibrosis was present in 7 month mdx mice, with further development into patches or transmural lesions at 10 months of age. As a result, 10 month mdx mice showed significantly reduced regional strain and torsion. However, young mdx mice showed an unexpected increase in regional strain and torsion, while 7 month mdx mice displayed similar regional ventricular function as the controls. Conclusion Despite normal global ventricular function, CMR tagging detected a biphasic change in myocardial wall strain and torsion, with an initial increase at young age followed by progressive decrease at older ages. These results suggest that CMR tagging can provide more sensitive measures of functional alterations than global functional indexes in dystrophin-related cardiomyopathies.

  6. Gaucher disease causing sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Yehia Saleh

    2016-09-01

    Full Text Available A 17-year-old male patient with Gaucher disease was presented to our institution complaining of rapid irregular palpitations. Echocardiography showed the presence of critical aortic stenosis due to Gaucher disease.

  7. Sudden cardiac death and mitral and aortic valve disease

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2013-09-01

    Independent determinants of sudden death were left ventricular ejection fraction and atrial fibrillation. The main cause of death in patients with mitral valve stenosis is a thromboembolism from the left heart chambers to systemic circulation, and the risk of the latter increases with atrial fibrillation. There is no sudden cardiac death in mitral valve stenosis. The absence of left ventricular remodeling in mitral valve stenosis probably explains this finding. Onset of symptoms and signs of left ventricular dysfunction are the main predictors of sudden death and are indications for surgery. It should be emphasized that the database of sudden cardiac death in patients with valvular heart disease is very limited compared to patients with coronary heart disease and cardiomyopathies. Some issues related to predictors and mechanisms of SCD are currently poorly understood, therefore prevention of sudden cardiac death is difficult, especially in asymptomatic patients.

  8. The Role of Ubiquitin Ligases in Cardiac Disease

    Science.gov (United States)

    Willis, Monte S.; Bevilacqua, Ariana; Pulinilkunnil, Thomas; Kienesberger, Petra; Tannu, Manasi; Patterson, Cam

    2014-01-01

    Rigorous surveillance of protein quality control is essential for the maintenance of normal cardiac function, while the dysregulation of protein turnover is present in a diverse array of common cardiac diseases. Central to the protein quality control found in all cells is the ubiquitin proteasome system (UPS). The UPS plays a critical role in protein trafficking, cellular signaling, and most prominently, protein degradation. As ubiquitin ligases (E3s) control the specificity of the UPS, their description in the cardiomyocyte has highlighted how ubiquitin ligases are critical to the turnover and function of the sarcomere complex, responsible for the heart’s required continuous contraction. In this review, we provide an overview of the UPS, highlighting a comprehensive overview of the cardiac ubiquitin ligases identified to date. We then focus on recent studies of new cardiac ubiquitin ligases outlining their novel roles in protein turnover, cellular signaling, and the regulation of mitochondrial dynamics and receptor turnover in the pathophysiology of cardiac hypertrophy, cardiac atrophy, myocardial infarction, and heart failure. PMID:24262338

  9. A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice.

    Science.gov (United States)

    Saxena, Smita; Cabuy, Erik; Caroni, Pico

    2009-05-01

    The mechanisms underlying disease manifestations in neurodegeneration remain unclear, but their understanding is critical to devising effective therapies. We carry out a longitudinal analysis in vivo of identified motoneurons selectively vulnerable (VUL) or resistant (RES) to motoneuron disease (amyotrophic lateral sclerosis, ALS) and show that subtype-selective endoplasmic reticulum (ER) stress responses influence disease manifestations. VUL motoneurons were selectively prone to ER stress and showed gradually upregulated ER stress markers from birth on in three mouse models of familial ALS (FALS). 25-30 days before the earliest denervations, ubiquitin signals increased in both VUL and RES motoneurons, but an unfolded protein response coupled with microglial activation was initiated selectively in VUL motoneurons. This transition was followed by selective axonal degeneration and spreading stress. The ER stress-protective agent salubrinal attenuated disease manifestations and delayed progression, whereas chronic enhancement of ER stress promoted disease. Thus, whereas all motoneurons are preferentially affected in ALS, ER stress responses in specific motoneuron subtypes influence the progressive manifestations of weakening and paralysis.

  10. Lyme Disease Manifestations in the Foot and Ankle: A Retrospective Case Series.

    Science.gov (United States)

    Miller, Jason R; Dunn, Karl W; Braccia, Domenick; Ciliberti, Louis J; Becker, Dina K; Hollinger, Joshua K; Brand, Shelley M

    Lyme disease is the result of Borrelia burgdorferi bacterial infection after exposure from a tick bite. A pathognomonic finding in early-stage Lyme disease is an expanding, red macular ring known as erythema migrans. Lyme arthritis is a late-stage manifestation of this disease, affecting the large, weightbearing joints with intermittent pain and swelling. The existing data on Lyme disease and subsequent arthritis have reported manifestations in the lower extremity, primarily in the knee and ankle and less commonly the small joints of the foot. We present a retrospective case series of 11 cases of painful arthritis in the foot and ankle with confirmatory Lyme disease testing. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  11. Simultaneous operation for cardiac disease and gastrointestinal malignancy

    Institute of Scientific and Technical Information of China (English)

    Teruo; Komokata; Mikio; Fukueda; Mamoru; Kaieda; Takayuki; Ueno; Yoshihumi; Iguro; Yutaka; Imoto; Ryuzo; Sakata

    2014-01-01

    AIM: To investigate the safety of performing simulta-neous cardiac surgery and a resection of a gastrointes-tinal malignancy. METHODS: Among 3664 elective cardiac operations performed in adults at Kagoshima University Hospi-tal from January 1991 to October 2009, this study reviewed the clinical records of the patients who un-derwent concomitant cardiac surgery and a gastroin-testinal resection. Such simultaneous surgeries were performed in 15 patients between January 1991 and October 2009. The cardiac diseases included 8 cases of coronary artery disease and 7 cases with valvular heart disease. Gastrointestinal malignancies included 11 gas-tric and 4 colon cancers. Immediate postoperative andlong-term outcomes were evaluated. RESULTS: Postoperative complications occurred in 5 patients(33.3%), including strokes(n = 1), respiratory failure requiring re-intubation(n = 1), hemorrhage(n = 2), hyperbilirubinemia(n = 1) and aspiration pneu-monia(n = 1). There was 1 hospital death caused by the development of adult respiratory distress syndrome after postoperative surgical bleeding followed aortic valve replacement plus gastrectomy. There was no car-diovascular event in the patients during the follow-up period. The cumulative survival rate for all patients was 69.2% at 5 years. CONCLUSION: Simultaneous procedures are accept-able for the patients who require surgery for both car-diac diseases and gastrointestinal malignancy. In par-ticular, the combination of a standard cardiac operation, such as coronary artery bypass grafting or an isolated valve replacement and simple gastrointestinal resection, such as gastrectomy or colectomy can therefore be safely performed.

  12. Toxocariasis-associated cardiac diseases--A systematic review of the literature.

    Science.gov (United States)

    Kuenzli, Esther; Neumayr, Andreas; Chaney, Matthew; Blum, Johannes

    2016-02-01

    Toxocariasis, caused by Toxocara canis or Toxocara catis, is a worldwide occurring parasitic disease, reaching high prevalences especially in tropical and subtropical countries. The clinical presentation can range from asymptomatic seropositivity to life threatenting disease, depending on the organ system involved. Cardiac involvement, one of the possible manifestations of human Toxocara spp. infection, is rarely reported in case reports. As far as we know, no systematic reviews of clinical presentations have been published till now and no clear recommendations regarding the treatment of Toxocara spp. infection involving the heart exist. In a systematic review of the literature, 24 published cases of Toxocara spp. infection involving the heart were identified. The cardiac entities described included myocarditis, pericarditis, and Loeffler's endocarditis. The clinical presentation ranged from asymptomatic or mild disease to life threatening myocarditis/pericarditis with heart failure or cardiac tamponade, leading to death. In most cases, the diagnosis was based on a combination of clinical, laboratory and radiological findings. Only in three of the nine cases in which histological analysis was performed (either pre- or post-mortem), granulomas or remnants of the parasite were detected. In the other six cases, findings were non-specific; the damage of the heart was equally caused by direct invasion of the larvae and by immunological reactions, either caused by the systemic hypereosinophilia or by the presence of the larvae in the tissue. The treatment regimen described mostly consisted of anthelmintic drugs in combination with corticosteroids. Even though dosage and duration of treatment varied widely, ranging from days to months, most patients were treated successfully. Cardiac involvement in Toxocara spp. infection is a rare but potentially life-threatening complication of a very common disease. The therapeutic regimens vary widely especially with regard to the

  13. A Rare Manifestation of Crohn's Disease: Sinonasal Granulomatosis. Report of a Case and Review of Literature

    Directory of Open Access Journals (Sweden)

    Lilia Baili

    2014-10-01

    Full Text Available Crohn’s disease is a granulomatous inflammatory bowel disease. Its pathologic findings include non-contiguous chronic inflammation and non-caseating granulomas, sometimes with extra-intestinal localizations. Sinonasal manifestations of Crohn’s disease are quite rare and only a few cases have been reported up to date in the worldwide literature. They are characterized by chronic mucosal inflammation, obstruction, bleeding and occasionally septal perforation. We report a case of sinonasal granulomatosis revealing Crohn’s disease in a 22-year-old woman and go over the available literature on sinonasal involvement in Crohn’s disease.

  14. Cardiac potassium channels in health and disease.

    Science.gov (United States)

    Brown, A M

    1997-05-01

    Cardiac K(+)currents regulate resting membrane potential and action potential duration. These tasks are accomplished for the most part by four membrane currents: an inwardly rectifying current (I(K1)), a transient outward current (I(To)), and rapid (I(Kr)), and slow (I(Ks)) delayed rectifier currents. Recent studies have revealed far greater complexity at the molecular level. I(K1) may be produced by at least three genes from the Kir 2 subfamily of the supergene Kir family. The remaining currents appear to be produced by the supergene Kvα family, sometimes in association with the cytoplasmic protein Kvβ family. I(To) may be produced by the Kv4 subfamily, but members of the Kv1 subfamily could contribute, particularly if associated with Kvβ genes. Very rapid currents could be produced by Kv1.5, but Kvs 1.2 and 2.1 might also participate. Additional levels of complexity are possible because members within a Kv subfamily may form heterotetramers, and these, in turn, may associate with different Kvβs. The situation may be simpler for I(Kr) and I(Ks), which at present appear to be produced by the Kv HER gene and the KvLQT1 gene, respectively. Mutations of these two genes have been linked to two forms of hereditary long QT syndrome, and heterologous expression of mutant HERGs has reproduced the pathophysiological phenotype satisfactorily. Sporadic mutations in these and other cardiac K(+)channel genes may provide a basis for hypersensitivity to cardioactive or cardiotoxic drugs. (Trends Cardiovasc Med 1997;7:118-124). © 1997, Elsevier Science Inc.

  15. [Cardiac and extracardiac complications in Kawasaki disease].

    Science.gov (United States)

    Kamada, Masahiro

    2014-09-01

    In terms of frequency and prognosis, discussions of the complications of Kawasaki disease have focused on coronary artery aneurysms and stenosis. However, as revealed by autopsy findings, medium and small muscular arteries in various organs could be injured in patients with Kawasaki disease, leading to the development of a variety of complications. Accurate diagnosis of Kawasaki disease can be especially difficult when incomplete Kawasaki disease is accompanied by rare complications involving the central nervous system, digestive system, and other systems in the body, which leads to delay in treatment and subsequent development of coronary artery aneurysms and delayed improvement of the existing complications. Doctors who treat Kawasaki disease should be familiar with the rare but important complications of Kawasaki disease.

  16. Erythema multiforme and persistent erythema as early cutaneous manifestations of Lyme disease

    NARCIS (Netherlands)

    Schuttelaar, M L; Laeijendecker, R; Heinhuis, R J; Van Joost, T

    1997-01-01

    We report two cases of borreliosis (Lyme disease) with unusual cutaneous manifestations, erythema multiforme, and persistent erythema. The lesions in both of our patients had distinctive histopathologic features. To our knowledge, this is the first report of erythema multiforme and persistent erythe

  17. Erythema multiforme and persistent erythema as early cutaneous manifestations of Lyme disease

    NARCIS (Netherlands)

    Schuttelaar, M L; Laeijendecker, R; Heinhuis, R J; Van Joost, T

    1997-01-01

    We report two cases of borreliosis (Lyme disease) with unusual cutaneous manifestations, erythema multiforme, and persistent erythema. The lesions in both of our patients had distinctive histopathologic features. To our knowledge, this is the first report of erythema multiforme and persistent

  18. Serous labyrinthitis as a manifestation of cat scratch disease: a case report

    Directory of Open Access Journals (Sweden)

    Kantas Ilias

    2009-09-01

    Full Text Available Abstract Introduction Cat scratch disease is an infectious disease transmitted by young cats, in which the principal causative factor is Bartonella henselae. The typical course of cat scratch disease is usually benign and self-limited and requires only supportive therapy. However, cases lasting up to 2 years have been reported, and more serious complications may occur. Many manifestations of the disease have been reported by different medical disciplines. Case presentation A case of cat scratch disease in a 71-year-old Greek woman with an unusual clinical course is presented here. Serous otitis media was combined with rotational vertigo due to labyrinthitis. The invaded ear was ipsilateral to the inoculation site. Conclusion Cervicofacial lymphadenopathy has been demonstrated as the most common otolaryngologic manifestation of cat scratch disease. Manifestation in the middle and inner ear has, to the best of our knowledge, not been reported before. Our report presents a patient with cat scratch disease with clinical signs and symptoms in the middle and inner ear.

  19. Aortic valve disease as a first manifestation of Alcaptonuria in surgically treated patient. Case report.

    Science.gov (United States)

    Vranes, Mile; Bilbija, Ilija; Mikic, Aleksandar; Kovacevic-Kostic, Natasa; Karan, Radmila; Nikolic, Dejan; Obrenovic-Kircanski, Biljana; Velinovic, Milos

    2014-01-01

    Alcaptonuria, a rare metabolic disorder (1:250 000), is usually presented with symptoms such as arthropathies of weight bearing joints. In this case, a 65 year old woman was admitted to our hospital with severe aortic stenosis and no other symptoms that would suggest the existance of Alcaptonuria. Intraoperative findings of black discoloration of the affected valve and ascending aorta, pointed towards the diagnosis of cardiac ochronosis, what was then confirmed by a PH examination. This case suggests that although alcaptonuria is a slow progressive disease with cardiac ochronosis as a predictable late complication, it can nevertheless be a first sign. In that case the attention should be brought to the surely affected lumbar spine and weight bearing joints, and other connective tissue. Alcaptonuria, Aortic valve, Cardiac ochronosis, Surgery.

  20. Deaths from ischemic disease, anthropometry and cardiac biometry

    OpenAIRE

    Leal, A; de Oliveira, J.; Amado, J.; Gomes, L.; Magalhaes, T.

    2005-01-01

    Rev Port Cardiol. 2005 Apr;24(4):521-30. Deaths from ischemic disease, anthropometry and cardiac biometry. [Article in English, Portuguese] Leal A, Oliveira J, Amado J, Gomes L, Magalhães T. Instituto de Ciencias Biomédicas Abel Salazar-Saúde Comunitária, Porto, Portugal. Abstract INTRODUCTION: The relation between body mass index (BMI)/obesity and left ventricular hypertrophy (LVH) in ischemic heart disease (IHD) has not been completely established, based o...

  1. Cardiac transplantation for pediatric patients. With inoperable congenital heart disease.

    OpenAIRE

    Shaffer, K M; Denfield, S W; Schowengerdt, K O; Towbin, J A; Radovancević, B; Frazier, O. H.; Price, J K; Gajarski, R J

    1998-01-01

    Recent studies have reported the expanding use of transplantation as the definitive option for pediatric patients with inoperable congenital heart disease. This study compares perioperative risk factors and outcomes in pediatric patients who received heart transplants for congenital heart disease with those in pediatric patients who received heart transplants for cardiomyopathy. Retrospective data collected on 40 consecutive pediatric patients undergoing cardiac transplantation from 1 January...

  2. Increased risk of sudden cardiac arrest in obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Warnier, Miriam Jacoba; Blom, Marieke Tabo; Bardai, Abdennasser

    2013-01-01

    BACKGROUND: We aimed to determine whether (1) patients with obstructive pulmonary disease (OPD) have an increased risk of sudden cardiac arrest (SCA) due to ventricular tachycardia or fibrillation (VT/VF), and (2) the SCA risk is mediated by cardiovascular risk-profile and/or respiratory drug use....... METHODS: A community-based case-control study was performed, with 1310 cases of SCA of the ARREST study and 5793 age, sex and SCA-date matched non-SCA controls from the PHARMO database. Only incident SCA cases, age older than 40 years, that resulted from unequivocal cardiac causes...

  3. Neurological manifestations, diagnosis, and treatment of celiac disease: A comprehensive review

    OpenAIRE

    Shahriar Nikpour

    2012-01-01

    Celiac disease or gluten sensitivity may initially present as one or more neurological signs and/or symptoms. On the other hand, it may be associated with or complicated by neurological manifestations. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological changes. With severe malnutrition after progression of celiac disease, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormal...

  4. Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

    Directory of Open Access Journals (Sweden)

    Elizabeth eMcCormick

    2015-06-01

    Full Text Available Desmin (DES is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children’s Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neuromuscular, gastrointestinal, and mood disorders. Muscle biopsy at age 45 was remarkable for cytoplasmic bodies, as well as ragged red fibers and SDH positive/COX negative fibers that were suggestive of a mitochondrial myopathy. Muscle also showed significant reductions in mitochondrial content (16% of control mean for citrate synthase activity and mitochondrial DNA (35% of control mean. His family history was significant for cardiac conduction defects and myopathy in multiple maternal relatives. Multiple single gene and panel-based sequencing studies were unrevealing. Whole exome sequencing identified a known pathogenic p.S13F mutation in DES that had previously been associated with desmin-related myopathy. Desmin-related myopathy is an autosomal dominant disorder characterized by right ventricular hypertrophic cardiomyopathy, myopathy, and arrhythmias. However, neuropathy, gastrointestinal dysfunction, and depletion of both mitochondria and mitochondrial DNA have not previously been widely recognized in this disorder. Recognition that mitochondrial dysfunction occurs in desmin-related myopathy clarifies the basis for the multi-systemic manifestations, as are typical of primary mitochondrial disorders. Understanding the mitochondrial pathophysiology of desmin-related myopathy highlights the possibility of new therapies for the otherwise untreatable and often fatal class of disease. We postulate that drug treatments aimed at improving mitochondrial biogenesis or reducing oxidative stress may be effective therapies to ameliorate the effects of desmin

  5. Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.

    Science.gov (United States)

    McCormick, Elizabeth M; Kenyon, Lawrence; Falk, Marni J

    2015-01-01

    Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neuromuscular, gastrointestinal, and mood disorders. Muscle biopsy at age 45 was remarkable for cytoplasmic bodies, as well as ragged red fibers and SDH positive/COX negative fibers that were suggestive of a mitochondrial myopathy. Muscle also showed significant reductions in mitochondrial content (16% of control mean for citrate synthase activity) and mitochondrial DNA (35% of control mean). His family history was significant for cardiac conduction defects and myopathy in multiple maternal relatives. Multiple single gene and panel-based sequencing studies were unrevealing. Whole exome sequencing identified a known pathogenic p.S13F mutation in DES that had previously been associated with desmin-related myopathy. Desmin-related myopathy is an autosomal dominant disorder characterized by right ventricular hypertrophic cardiomyopathy, myopathy, and arrhythmias. However, neuropathy, gastrointestinal dysfunction, and depletion of both mitochondria and mitochondrial DNA have not previously been widely recognized in this disorder. Recognition that mitochondrial dysfunction occurs in desmin-related myopathy clarifies the basis for the multi-systemic manifestations, as are typical of primary mitochondrial disorders. Understanding the mitochondrial pathophysiology of desmin-related myopathy highlights the possibility of new therapies for this otherwise untreatable and often fatal class of disease. We postulate that drug treatments aimed at improving mitochondrial biogenesis or reducing oxidative stress may be effective therapies to ameliorate the effects of desmin-related disease.

  6. Pulmonary granulomatous diseases and pulmonary manifestations of systemic granulomatous disease. Including tuberculosis and nontuberculous mycobacteriosis; Pulmonale granulomatoese Erkrankungen und pulmonale Manifestationen systemischer Granulomatosen. Inklusive Tuberkulose und nichttuberkuloese Mykobakteriosen

    Energy Technology Data Exchange (ETDEWEB)

    Piel, S. [Universitaet Heidelberg, Zentrum fuer interstitielle und seltene Lungenerkrankungen, Pneumologie und Beatmungsmedizin, Thoraxklinik, Heidelberg (Germany); Kreuter, M.; Herth, F. [Universitaet Heidelberg, Zentrum fuer interstitielle und seltene Lungenerkrankungen, Pneumologie und Beatmungsmedizin, Thoraxklinik, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany); Kauczor, H.U. [Universitaetsklinikum Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany); Heussel, C.P. [Universitaet Heidelberg, Abteilung fuer Diagnostische und Interventionelle Radiologie mit Nuklearmedizin, Thoraxklinik, Heidelberg (Germany); Universitaetsklinikum Heidelberg, Translational Lung Research Center (TLRC), Heidelberg (Germany)

    2016-10-15

    Granulomas as signs of specific inflammation of the lungs are found in various diseases with pulmonary manifestations and represent an important imaging finding. The standard imaging modality for the work-up of granulomatous diseases of the lungs is most often thin-slice computed tomography (CT). There are a few instances, e. g. tuberculosis, sarcoidosis and silicosis, where a chest radiograph still plays an important role. Further radiological modalities are usually not needed in the routine work-up of granulomatous diseases of the chest. In special cases magnetic resonance imaging (MRI) and positron emission tomography (PET)-CT scans play an important role, e. g. detecting cardiac sarcoidosis by cardiac MRI or choline C-11 PET-CT in diagnosing lung carcinoma in scar tissue after tuberculosis. The accuracy of thin-slice CT is very high for granulomatous diseases. In cases of chronic disease and fibrotic interstitial lung disease it is important to perform thin-slice CT in order to diagnose a specific disease pattern. Thin-slice CT is also highly sensitive in detecting disease complications and comorbidities, such as malignancies. Given these indications thin-slice CT is generally accepted in the routine daily practice. A thin-slice CT and an interdisciplinary discussion are recommended in many cases with a suspected diagnosis of pulmonary granulomatous disease due to clinical or radiographic findings. (orig.) [German] Granulome als Zeichen der spezifischen Entzuendung im Lungengewebe treten bei zahlreichen Erkrankungen mit pulmonaler Manifestation auf und stellen einen wichtigen Befund in der Bildgebung dar. Das radiologische Standardverfahren bei pulmonalen Granulomatosen ist meistens die Duennschichtcomputertomographie, in wenigen Faellen, wie z. B. bei Tuberkulose, Sarkoidose und Silikose, spielt die Roentgenthoraxuebersicht immer noch eine wichtige Rolle. Bei der Standardabklaerung der meisten Granulomatosen ist die Hinzunahme weiterer Verfahren nicht

  7. Neurological Manifestations, Diagnosis, and Treatment of Celiac Disease: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Shahriar Nikpour

    2012-01-01

    Full Text Available Celiac disease or gluten sensitivity may initially present asone or more neurological signs and/or symptoms. On the other hand, it may be associated with or complicated by neurological manifestations. Neurological presentations are rare in children but as many as 36% of adult patients present with neurological changes. With severe malnutrition after progression of celiac disease, different vitamin deficiencies may develop. Such problems can in turn overlap with previous neurological abnormalities including ataxia,epilepsy, neuropathy, dementia, and cognitive disorders. Inthis study, we aimed to review the neurological aspects of celiac disease. Early diagnosis and treatment could prevent related disability in patients with celiac disease.

  8. Cardiac biomarkers in children with congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    Masaya Sugimoto; Seiko Kuwata; Clara Kurishima; Jeong Hye Kim; Yoich Iwamoto; Hideaki Senzaki

    2015-01-01

    Background: Most congenital heart diseases (CHDs) have specific hemodynamics, including volume and pressure overload, as well as cyanosis and pulmonary hypertension, associated with anatomical abnormalities. Such hemodynamic abnormalities can cause activation of neurohormones, inflammatory cytokines, fibroblasts, and vascular endothelial cells, which in turn contribute to the development of pathologic conditions such as cardiac hypertrophy,fi brosis, and cardiac cell damages and death. Measuring biomarker levels facilitates the prediction of these pathological changes, and provides information about the stress placed on the myocardial cells, the severity of the damage, the responses of neurohumoral factors, and the remodeling of the ventricle. Compared to the ample information on cardiac biomarkers in adult heart diseases, data from children with CHD are still limited. Data sources: We reviewed cardiac biomarkers-specifi cally focusing on troponin as a biomarker of myocardial damage, amino-terminal procollagen type III peptide (PIIIP) as a biomarker of myocardialfi brosis and stromal remodeling, and B-type natriuretic peptide (BNP)/N-terminal proBNP as biomarkers of cardiac load and heart failure, by introducing relevant publications, including our own, on pediatric CHD patients as well as adults. Results: Levels of highly sensitive troponin I are elevated in patients with atrial septal defects (ASDs) and ventricular septal defects (VSDs). PIIIP levels are also elevated in patients with ASD, VSD, pulmonary stenosis, and Tetralogy of Fallot. Measurement of BNP and N-terminal proBNP levels shows good correlation with heart failure score in children. Conclusions: In the treatment of children with CHD requiring delicate care, it is vital to know the specifi c degree of myocardial damage and severity of heart failure. Cardiac biomarkers are useful tools for ascertaining the condition of CHDs with ease and are likely to be useful in determining the appropriate care of

  9. A STUDY TO DETERMINE THE PREVALENCE OF CARDIAC DISEASE IN HIV POSITIVE PATIENTS IN A TERTIARY CARE HOSPITAL

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    Purushottam Rao

    2015-03-01

    Full Text Available INTRODUCTION : Acquired immune deficiency syndrome was recognized as an emerging disease only in the early 1980’s. The disease has rapidly established itself throughout the world and may persist well into the 21 st century. Infectio n with human immunodeficiency virus is one of the leading causes of acquired heart disease and specifically of symptomatic heart failure. The cardiac complications of HIV infection tend to occur late in the disease and as patients with HIV infection are li ving longer , they are at risk of developing chronic diseases including coronary artery disease. Hence , clinicians should identify the risk factors for such disease and also be aware of the various cardiovascular manifestations of HIV infection. AIM AND OBJ ECTIVES : To find out prevalence of cardiac disease by correlating clinical findings and echocardiographic changes in HIV positive patients. MATERIALS AND METHOD : It is an observation type of study done in the Department of Medicine and anti retroviral ther apy centre , King George Hospital , Visakhapatnam , Andhra Pradesh. It is a Tertiary Care Hospital. Fifty patients who were detected to be HIV positive were included in the study after fulfilling the inclusion and exclusion criteria. RESULTS : In this study , 1 5 patients constituting 30% of the total patients in the study had echocardiographic changes suggestive of cardiac disease with varied manifestations. CONCLUSION : Prevalence of heart disease increases with the duration of HIV illness. Patients with heart disease can be asymptomatic in early stages of the disease. So , periodic electrocardiographic and echocardiographic evaluation should be done at regular intervals from the time of diagnosis of HIV disease

  10. [Recent knowledge on the linkage of strain specific genotypes with clinical manifestations of human citomegalovirus disease].

    Science.gov (United States)

    Pignatelli, Sara

    2011-01-01

    Human citomegalovirus (CMV) is a beta-herpesvirus able to establish lifelong persistent infections which usually remain asymptomatic. However, severe diseases may develop in immunocompromised subjects (e.g., AIDS patients and transplant recipients) and if acquired in utero. Circulating CMV clinical strains display genetic polymorphisms in multiple genes, which may be implicated in CMV-induced immunopathogenesis, as well as strain-specific tissue-tropism, viral spread in the host cells and virulence, finally determining the wide spectrum of clinical manifestations of CMV disease. Current literature report a number of studies regarding the main CMV polymorphic genes (UL55-gB, UL144, UL73-gN, UL74-gO), their diagnostic and therapeutic impact, their potential clinical relevance as prognostic markers. This paper aims to critically analyse the results of these studies and evaluate the linkage of strain-specific genotypes with clinical manifestations of CMV disease and their perspective implications.

  11. Spontaneous gallbladder perforation, pericholecystic abscess and cholecystoduodenal ifstula as the ifrst manifestations of gallstone disease

    Institute of Scientific and Technical Information of China (English)

    Vui Heng Chong; Kian Soon Lim; Varkey Vallickad Mathew

    2009-01-01

    BACKGROUND: Gallstone disease is common, and complications that are frequently encountered include acute cholecystitis and acute pancreatitis, but rarely gallbladder perforation. METHOD: Data were retrospectively collected from clinical case notes and a literature review is presented. RESULTS: A 72-year-old lady presented with spontaneous gallbladder perforation, pericholecystic abscess and cholecystoduodenal ifstula as the ifrst manifestations of gallstone disease. She was previously well and had no abdominal complaints. Her condition was successfully managed with initial antibiotic therapy followed by interval cholecystectomy and ifstula repair. CONCLUSIONS: Our case highlighted some uncommon but severe complications which occurred simultaneously as the ifrst manifestations of previously asymptomatic gallstone disease. Such complications need to be considered in patients suspected of intra-abdominal sepsis, even when there are no characteristic symptoms.

  12. Assessment of joint and fascia manifestations in chronic graft-versus-host disease.

    Science.gov (United States)

    Inamoto, Yoshihiro; Pidala, Joseph; Chai, Xiaoyu; Kurland, Brenda F; Weisdorf, Daniel; Flowers, Mary E D; Palmer, Jeanne; Arai, Sally; Jacobsohn, David; Cutler, Corey; Jagasia, Madan; Goldberg, Jenna D; Martin, Paul J; Pavletic, Steven Z; Vogelsang, Georgia B; Lee, Stephanie J; Carpenter, Paul A

    2014-04-01

    To investigate the usefulness of various scales for evaluating joint and fascia manifestations in patients with chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic cell transplantation, and to compare the scales in terms of simplicity of use and ability to yield reliable and clinically meaningful results. In a prospective, multicenter, longitudinal, observational cohort of patients with chronic GVHD (n = 567), we evaluated 3 scales proposed for assessing joint status: the National Institutes of Health (NIH) joint/fascia scale, the Hopkins fascia scale, and the Photographic Range of Motion (P-ROM) scale. Ten other scales were also tested for assessment of symptoms, quality of life, and physical functions. Joint and fascia manifestations were present at study enrollment in 164 (29%) of the patients. Limited range of motion was most frequent at the wrists or fingers. Among the 3 joint assessment scales, changes in the NIH scale correlated with both clinician- and patient-perceived improvement of joint and fascia manifestations, with higher sensitivity than the Hopkins fascia scale. Changes in all 3 scales correlated with clinician- and patient-perceived worsening, but the P-ROM scale was the most sensitive in this regard. Onset of joint and fascia manifestations was not associated with subsequent mortality. Joint and fascia manifestations are common in patients with chronic GVHD and should be assessed carefully in these patients. Our results support the use of the NIH joint/fascia scale and P-ROM scale to assess joint and fascia manifestations. The NIH scale better captures improvement, while the P-ROM scale better captures worsening. The utility of these scales could also be tested in the rheumatic diseases. Copyright © 2014 by the American College of Rheumatology.

  13. Joint and fascia manifestations in chronic graft-versus-host disease and their assessment

    Science.gov (United States)

    Inamoto, Yoshihiro; Pidala, Joseph; Chai, Xiaoyu; Kurland, Brenda F.; Weisdorf, Daniel; Flowers, Mary E.D.; Palmer, Jeanne; Arai, Sally; Jacobsohn, David; Cutler, Corey; Jagasia, Madan; Goldberg, Jenna D.; Martin, Paul J.; Pavletic, Steven Z.; Vogelsang, Georgia B.; Lee, Stephanie J.; Carpenter, Paul A.

    2014-01-01

    Objective Joint and fascia manifestations in patients with chronic graft-versus-host disease (GVHD) after allogeneic hematopoietic cell transplantation need to be assessed reliably, simply and in a clinically meaningful way. Methods In a prospective, multicenter, longitudinal, observational cohort of patients with chronic GVHD (n=567), we evaluated 3 scales proposed for assessing joint status: National Institutes of Health (NIH) joint/fascia scale, Hopkins fascia scale and the Photographic Range of Motion (P-ROM) scale. Ten other scales were also tested for assessing symptoms, quality of life and physical functions. Results Joint and fascia manifestations were present at study enrollment in 164 (29%) patients. Limited range of motion was most frequent at wrists or fingers. Among the 3 joint scales, changes in the NIH scale correlated with both clinician and patient-perceived improvement of joint and fascia manifestations with higher sensitivity than the Hopkins fascia scale. Changes in all 3 scales correlated with clinician and patient-perceived worsening but the P-ROM scale was the most sensitive in this regard. Onset of joint and fascia manifestations was not associated with subsequent mortality. Conclusion Joint and fascia manifestations are common and should be assessed carefully in patients with chronic GVHD. Our results support the use of the NIH joint/fascia scale and P-ROM scale to assess joint and fascia manifestations. The NIH scale better captures improvement, while the P-ROM scale better captures worsening. The utility of these scales could also be tested in the rheumatic diseases. PMID:24757155

  14. Acute Myocardial Infarction: The First Manifestation of Ischemic Heart Disease and Relation to Risk Factors

    Directory of Open Access Journals (Sweden)

    Manfroi Waldomiro Carlos

    2002-01-01

    Full Text Available OBJECTIVE: To assess the association between cardiovascular risk factors and acute myocardial infarction as the first manifestation of ischemic heart disease, correlating them with coronary angiographic findings. METHODS: We carried out a cross-sectional study of 104 patients with previous acute myocardial infarction, who were divided into 2 groups according to the presence or absence of angina prior to acute myocardial infarction. We assessed the presence of angina preceding acute myocardial infarction and risk factors, such as age >55 years, male sex, smoking, systemic arterial hypertension, lipid profile, diabetes mellitus, obesity, sedentary lifestyle, and familial history of ischemic heart disease. On coronary angiography, the severity of coronary heart disease and presence of left ventricular hypertrophy were assessed. RESULTS: Of the 104 patients studied, 72.1% were males, 90.4% were white, 73.1% were older than 55 years, and 53.8% were hypertensive. Acute myocardial infarction was the first manifestation of ischemic heart disease in 49% of the patients. The associated risk factors were systemic arterial hypertension (RR=0.19; 95% CI=0.06-0.59; P=0.04 and left ventricular hypertrophy (RR=0.27; 95% CI=0,.8-0.88; P=0.03. The remaining risk factors were not statistically significant. CONCLUSION: Prevalence of acute myocardial infarction as the first manifestation of ischemic heart disease is high, approximately 50%. Hypertensive individuals more frequently have symptoms preceding acute myocardial infarction, probably due to ventricular hypertrophy associated with high blood pressure levels.

  15. Case Reports of Cat Scratch Disease with Typical and Atypical Clinical Manifestations: A Literature Review

    Directory of Open Access Journals (Sweden)

    Gulshan Umbreen

    2017-04-01

    Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation

  16. Clinical and Laboratory Features and Extraintestinal Manifestations of Celiac Disease in Adults

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    Mete Akın

    2012-04-01

    Full Text Available Aim: Celiac disease an autoimmune disorder resulting from an immune response to the gluten in genetically predisposed patients. Although, diarrhea is the most common finding at presentation in adults, disease may present with extraintestinal manifestations such as anemia, osteoporosis, elevated transaminase levels and growth retardation. In this article, symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of adult patients with celiac disease were evaluated. Material and Method: 22 patients whose followed with the diagnosis of celiac disease in Suleyman Demirel University Department of Gastroenterology, between January 2007 and Semptember 2010, were evaluated retrospectively. Symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of patients at presentation were investigated. Results: 13 (59% of all cases were female and 9 (41% were male. Mean age at presentation was 38,5 years. Most common complaints were diarrhea and weakness . Tissue transglutaminase and/or antiendomysium antibody were positive, and diagnosis was confirmed by histopathologic examination in all patients. Iron deficiency, vitamine B12 deficiency and folic acid deficiency were detected in 17 (77%, 8 (36% and 6 (27% patients, respectively. There were elevated transaminase levels in 8 (36% patients. Osteoporosis was detected in 4 female and 1 male patients. Sensorimotor polineuropathy was detected in 2 patients. There was growth retardation in 2 patients. Autoimmune hypothyroidism and Type 1 diabetes mellitus were detected in 2 and 1 patients, respectively. Coexistence with Crohn%u2019s disease was detected in a patient. Discussion: Celiac disease may present with extraintestinal manifestations in adults. It should be remembered, especially in patients with iron deficiency and mild to moderate transaminase elevations with unexplained etiology. It should be considered in patients with chronic diarrhea and

  17. Neuropsychiatric manifestation of celiac disease: A case-control study in North India

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    Mahendra Nimel

    2016-01-01

    Full Text Available Background: Celiac disease (CD is an immune-mediated disease dependent on gluten. Prevalence of CD is about 1% and beside gastrointestinal complaints, neuropsychiatric symptoms may represent an atypical feature of CD. Some studies suggest that a gluten-free diet is effective in treating them. Settings and Design: This case-control study of 49 cases was done during the period of January to March 2013. Aim: To know the spectrum of psychiatric manifestations and cognitive functions in children with CD. Materials and Methods: We took 49 diagnosed cases of CD (based on the demonstration of IgA tissue transglutaminase antibodies and duodenal biopsy and compared with demographically matched control group (n = 50 on Seguin Form Board Test for cognitive functions and Behavioral Summarized Evaluation-Revised scale for assessment of psychiatric and behavior disturbances. All possible psychiatric diagnosis was made on the basis of International Statistical Classification of Disease and Related Health Problems-Tenth Revision criteria. Statistical Analysis: Statistical analyses were done by using Chi-square test and two-tailed P-values. Results: Neuropsychiatric manifestations were seen in 29% of cases as against 4% of controls which was statistically significant (P=0.001. Only four cases and 1 control fount to be mild mental retardation (P = 0.16. Autism, dyslexia, developmental delay, disruptive behavior disorder, and tic disorder present in cases were not found. Conclusion: Clinical manifestations of CD vary from typical malabsorption syndrome to neuropsychiatric manifestations. Those psychiatric patients who are not responding to standard pharmacological modalities, a diagnosis of CD should be taken into consideration. Only behavioral problem can be the sole clinical manifestation of CD.

  18. Update on Medical Management of Clinical Manifestations of Chronic Kidney Disease.

    Science.gov (United States)

    Quimby, Jessica M

    2016-11-01

    Dysregulation of normal kidney functions in chronic kidney disease (CKD) leads to several pathophysiologic abnormalities that have the potential to significantly clinically affect the CKD patient. This article discusses the clinical impact of hypertension, hypokalemia, anemia, dysrexia, nausea/vomiting, and constipation in the CKD patient and therapies for these conditions. These clinical manifestations of disease may not occur in every patient and may also develop later during the progression of disease. Therefore, monitoring for, identifying, and addressing these factors is considered an important part of the medical management of CKD. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Subglotic Stenosis as manifestation in Wegener’s Disease. A case report

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    Sofía VALLE-OLSEN

    2017-03-01

    Full Text Available Introduction and objective: Subglottic stenosis in Wegener’s disease (WD represents a diagnostic challenge because it’s ability to be the unique manifestation. Description: A case of subglottic GW described in a woman 14 years. Discussion: Subglottic stenosis secondary to Wegener’s disease use to be associated with ENT symptoms, so these can give us the etiological suspicion. In the absence of these, we should include it in the differential diagnosis and try a histopathologic confirmation. Conclusions: In an isolated subglottic stenosis, rule Wegener's disease performing a biopsy of nasal mucosa and two serology tests.

  20. Focused cardiac ultrasound is feasible in the general practice setting and alters diagnosis and management of cardiac disease

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    James Yates

    2016-08-01

    Full Text Available Background: Ultrasound-assisted examination of the cardiovascular system with focused cardiac ultrasound by the treating physician is non-invasive and changes diagnosis and management of patient’s with suspected cardiac disease. This has not been reported in a general practice setting. Aim: To determine whether focused cardiac ultrasound performed on patients aged over 50 years changes the diagnosis and management of cardiac disease by a general practitioner. Design and setting: A prospective observational study of 80 patients aged over 50 years and who had not received echocardiography or chest CT within 12 months presenting to a general practice. Method: Clinical assessment and management of significant cardiac disorders in patients presenting to general practitioners were recorded before and after focused cardiac ultrasound. Echocardiography was performed by a medical student with sufficient training, which was verified by an expert. Differences in diagnosis and management between conventional and ultrasound-assisted assessment were recorded. Results and conclusion: Echocardiography and interpretation were acceptable in all patients. Significant cardiac disease was detected in 16 (20% patients, including aortic stenosis in 9 (11% and cardiac failure in 7 (9%, which were missed by clinical examination in 10 (62.5% of these patients. Changes in management occurred in 12 patients (15% overall and 75% of those found to have significant cardiac disease including referral for diagnostic echocardiography in 8 (10%, commencement of heart failure treatment in 3 (4% and referral to a cardiologist in 1 patient (1%. Routine focused cardiac ultrasound is feasible and frequently alters the diagnosis and management of cardiac disease in patients aged over 50 years presenting to a general practice.

  1. Sudden cardiac death and coronary disease in the young

    DEFF Research Database (Denmark)

    Zachariasardóttir, Sára; Risgaard, Bjarke; Ågesen, Frederik Nybye

    2017-01-01

    autopsied CAD-SCD cases. Full autopsy report and medical records from general practitioners and hospitals were obtained. RESULTS: There was a male predominance (n=151, 76%) and the median age was 42years. In witnessed cases, 51% had a shockable rhythm and 9 cases returned to spontaneous circulation briefly......, CAD-SCD victims aged 36-49years had more severe atherosclerosis in all coronary arteries, more multi-vessel disease (29% vs. 15%, p=0.049) and less commonly (38% vs. 54%, p=0.039) acute coronary occlusion than victims victims had cardiac symptoms prior...... to death. CONCLUSION: This nationwide study found several differences in the pathologic lesions of the heart in victims aged 18-35 and 36-49years, which might be associated with different disease progression leading to death in these age groups. We also report a high frequency of cardiac symptoms prior...

  2. Reductionism and holism in coronary heart disease and cardiac nursing.

    Science.gov (United States)

    Chummun, Harry

    Reductionism and holism are two contrasting philosophies which provide scientific knowledge of disease processes, health dynamics and care interventions. While reductionism focuses on specific and perhaps narrow concepts, it enhances our in-depth knowledge of key health issues. Holism focuses on understanding how all the significant factors affecting the particular health issue are involved, so a more informed decision can be made about health intervention. This article explores the contribution each makes to our understanding of coronary heart disease (CHD) and to the preparation of nurses working in cardiac nursing. It proposes that pre- and post-registration nursing curricula reflect both reductionist and holistic approaches and therefore cardiac nurses are suitably trained to manage reductionist as well as holistic care for clients with CHD.

  3. Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance

    Energy Technology Data Exchange (ETDEWEB)

    Poll, L.W.; Koch, J.A.; Moedder, U. [Duesseldorf Univ. (Germany). Inst. fuer Diagnostische Radiologie; Dahl, S. vom; Haeussinger, D. [Duesseldorf Univ. (Germany). Medizinische Fakultaet; Loxtermann, E. [Heinrich Heine Univ., Duesseldorf (Germany). Dept. of Oral and Maxillofacial Surgery; Sarbia, M. [Heinrich Heine Univ., Duesseldorf (Germany). Dept. of Pathology; Niederau, C. [Department of Internal Medicine, St. Josef Hospital, Muelheimerstrasse 83, D-46045 Oberhausen (Germany)

    2000-10-01

    Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease. (orig.)

  4. Renal manifestations of human brucellosis: First report of minimal change disease

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    Nikolaos Sabanis

    2016-01-01

    Full Text Available Human brucellosis is considered a great example of the complexity of clinical manifestations possibly affecting multiple organs or systems. Renal manifestations of human brucellosis have been documented in few case reports and one case series. Herein, we present a case of Nephrotic syndrome (NS due to minimal change disease in the course of acute brucellosis. A 53-year-old male farmer was admitted to our department with acute brucellosis and NS. Renal biopsy revealed minimal change disease. Combined treatment with prednisone (1 mg/kg, rifampicin (600 mg/day, and doxycycline (200 mg/day was initiated. Complete remission of NS was achieved at the end of the fourth week. One year later, the patient remained in complete remission of NS without any sign of relapse of brucellosis.

  5. Renal manifestations of human brucellosis: First report of minimal change disease.

    Science.gov (United States)

    Sabanis, Nikolaos; Gavriilaki, Eleni; Paschou, Eleni; Tsotsiou, Eleni; Kalaitzoglou, Asterios; Kavlakoudis, Christos; Vasileiou, Sotirios

    2016-05-01

    Human brucellosis is considered a great example of the complexity of clinical manifestations possibly affecting multiple organs or systems. Renal manifestations of human brucellosis have been documented in few case reports and one case series. Herein, we present a case of Nephrotic syndrome (NS) due to minimal change disease in the course of acute brucellosis. A 53-year-old male farmer was admitted to our department with acute brucellosis and NS. Renal biopsy revealed minimal change disease. Combined treatment with prednisone (1 mg/kg), rifampicin (600 mg/day), and doxycycline (200 mg/day) was initiated. Complete remission of NS was achieved at the end of the fourth week. One year later, the patient remained in complete remission of NS without any sign of relapse of brucellosis.

  6. Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease

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    Dong-Seok Oh

    2011-10-01

    Full Text Available Huntington’s disease (HD is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.

  7. High prevalence of vitamin D deficiency and insufficiency in patients with manifest Huntington disease

    Science.gov (United States)

    Chel, Victor GM; Ooms, Marcel E; van der Bent, Jessie; Veldkamp, Fleur; Roos, Raymund AC; Achterberg, Wilco P; Lips, Paul

    2013-01-01

    Vitamin D deficiency and insufficiency are common in older institutionalized people and known to be associated with muscle weakness, impaired balance and increased fall risk. Falls and balance problems are common in people with Huntington disease (HD). Despite this, the prevalence of vitamin D deficiency in patients with manifest HD has never been investigated. Serum 25(OH)D levels were measured in routinely drawn blood samples from 28 Dutch institutionalized patients with manifest Huntington disease. Mean serum 25(OH)D level was 33 nmol/l (SD 15). Twenty-five subjects (89%) were vitamin D deficient or insufficient (25(OH)D < 50 nmol/L). A positive association was found between serum 25(OH)D levels and Functional Ambulation Classification (FAC) scores (p = 0.023). PMID:24516688

  8. Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

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    Neslihan Onenli Mungan

    2015-03-01

    Full Text Available Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications, renal insuffiency or stroke. Currently there is no cure for Fabry disease, enzyme replacement therapy is the only choice in this progressive disease. A 9-year-old boy admitted to the Dermatology Clinic with reddish papular skin lesions, joint pain and anhydrosis. Hystological examination of the skin biopsy revealed angiokeratoma. There was no renal dysfunction or proteinuria. Biochemical confirmation of Fabry disease was made by determining the deficient leukocyte and #945;-galactosidase activity. Subsequently, the patient's molecular analysis was identified a novel nonsense mutation c. 785G>T in the GLA gene. Enzyme replacement therapy with agalsidase beta was started. He is on enzyme replacement therapy for 8 years, significant improvement was obtained in severity and frequency of pain crisis and fatigue. We report this case to emphasize the importance of early diagnosis of Fabry disease restricted to dermatological findings, especially before renal and cardiac involvement occurs, while enzyme replacement therapy is now available. Also this patient is one of the first Fabry patients under enzyme replacement therapy in Turkey. [Cukurova Med J 2015; 40(Suppl 1: 156-160

  9. Cutaneous Manifestations of Thyroid Disease: A Case of Thyroid-Induced Myxedema

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    Anjali Shroff

    2011-01-01

    Full Text Available The cutaneous manifestations of thyroid disease can be present in the hair, nails, and local or diffuse locations throughout the skin. Traditionally, thyroid-associated mucin deposition is present in a pretibial location on bilateral lower legs. We present a case of a growing plaque on the lower back of a 10-year-old girl, whose appearance coincided with a recent diagnosis of Hashimoto's thyroiditis.

  10. Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease

    OpenAIRE

    Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S

    2013-01-01

    Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. A...

  11. Two cases of possible neuro-Sweet disease with meningoencephalitis as the initial manifestation

    OpenAIRE

    Go Makimoto; Yasuhiro Manabe; Chizuru Yamakawa; Daiki Fujii; Yasuko Ikeda-Sakai; Hisashi Narai; Nobuhiko Omori; Koji Abe

    2012-01-01

    We report 2 cases that were considered to be neuro-Sweet disease. They initially manifested with meningoencephalitis and no skin lesions, and rapidly improved with corticosteroid therapy. In both cases, patients complained of meningitic symptoms such as fever and headache, and HLA-B54 and -Cw1 turned out to be positive over the clinical course. Cerebrospinal fluid analysis showed increased levels of lymphocytes and protein. In case #1, fluid-attenuated inversion recovery (FLAIR), magnetic res...

  12. Rectal inflammation as first manifestation of graft-vs-host disease: radiologic-pathologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Cantisani, V.; Mortele, K.J.; Viscomi, S.G.; Silverman, S.G.; Ros, P.R. [Division of Abdominal Imaging and Intervention, Dept. of Radiology, Brigham and Women' s Hospital, Boston, MA (United States); Glickman, J. [Dept. of Pathology, Brigham and Women' s Hospital, Boston, MA (United States)

    2003-12-01

    Graft-vs-host disease (GVHD) is a common, life-threatening complication of bone marrow transplantation that frequently involves the gastrointestinal tract. Since symptoms are typically nonspecific, radiologic examination is often performed to reach a diagnosis. To the best of our knowledge, this is the first reported radiologic description of a case of rectal involvement as the first manifestation of GVHD. The differential diagnosis of segmental rectal wall thickening in a patient following bone marrow transplantation should include GVHD. (orig.)

  13. Functional role of anion channels in cardiac diseases

    Institute of Scientific and Technical Information of China (English)

    Da-yue DUAN; Luis LH LIU; Nathan BOZEAT; Z Maggie HUANG; Sunny Y XIANG; Guan-lei WANG; Linda YE; Joseph R HUME

    2005-01-01

    In comparison to cation (K+, Na+, and Ca2+) channels, much less is currently known about the functional role of anion (Cl-) channels in cardiovascular physiology and pathophysiology. Over the past 15 years, various types of Cl- currents have been recorded in cardiac cells from different species including humans. All cardiac Cl- channels described to date may be encoded by five different Cl- channel genes: the PKA- and PKC-activated cystic fibrosis tansmembrane conductance regulator (CFTR), the volume-regulated ClC-2 and ClC-3, and the Ca2+-activated CLCA or Bestrophin. Recent studies using multiple approaches to examine the functional role of Cl- channels in the context of health and disease have demonstrated that Cl- channels might contribute to: 1) arrhythmogenesis in myocardial injury; 2) cardiac ischemic preconditioning; and 3) the adaptive remodeling of the heart during myocardial hypertrophy and heart failure. Therefore,anion channels represent very attractive novel targets for therapeutic approaches to the treatment of heart diseases. Recent evidence suggests that Cl- channels,like cation channels, might function as a multiprotein complex or functional module.In the post-genome era, the emergence of functional proteomics has necessitated a new paradigm shift to the structural and functional assessment of integrated Cl- channel multiprotein complexes in the heart, which could provide new insight into our understanding of the underlying mechanisms responsible for heart disease and protection.

  14. Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

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    Ting-Rong Hsu

    2017-01-01

    Full Text Available We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3 accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G>A (IVS4 mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015. Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively, 13 males (54.2% and five females (83.3% received agalsidase alfa enzyme replacement therapy (ERT before biopsy. Median left ventricular mass indexed to height (LVMI within ±6 months of biopsy was 65.3 (52.7; 93.1 in males and 53.2 (42.0; 55.0 g/m2.7 in females. A moderate, positive, statistically significant correlation was found between the percentage area Gb3 accumulation in cardiomyocytes and LVMI (Spearman’s ρ, 0.45; p = 0.014; a smaller, positive, non-statistically significant correlation was observed between cardiomyocyte diameter and LVMI (Spearman’s ρ 0.16, p = 0.394. Moderate, statistically significant, negative correlations were found between Gb3 accumulation and ERT duration (Spearman’s ρ, −0.49, p = 0.007 and between cardiomyocyte size and ERT duration (Spearman’s ρ, −0.37, p = 0.048. Longer ERT duration was associated with smaller amounts of Gb3 accumulation and smaller cardiomyocyte size. Further follow-up is recommended to confirm these trends in a larger sample size.

  15. [Minimally invasive cardiac surgery for aortic valve disease].

    Science.gov (United States)

    Fujimura, Y; Katoh, T; Hamano, K; Gohra, H; Tsuboi, H; Esato, K

    1998-12-01

    Recent surgical advances leading to good operative results have contributed to the trend to useminimally invasive approaches, even in cardiac surgery. Smaller incisions are clearly more cosmetically acceptable to patients. When using a minimally invasive approach, it is most important to maintain surgical quality without jeopardizing patients. A good operative visual field leads to good surgical results. In the parasternal approach, we use a retractor to harvest an internal thoracic artery in coronary artery bypass surgery. Retracting the sternum upward allows for a good surgical view and permits the use of an arch cannula rather than femoral cannulation. When reoperating for aortic valve repair, the j-sternotomy approach requires less adhesiolysis compared with the traditional full sternotomy. No special technique is necessary to perform aortic valve surgery using the j-sternotomy approach. However, meticulous attention must be paid to avoiding left ventricular air embolisms to prevent postoperative stroke or neurocognitive deficits, especially when utilizing a minimally invasive approach. Transesophageal echo is useful not only for monitoring cardiac function but also for monitoring the persence of air in the left ventricle and atrium. This paper compare as the degree of invasion of minimally invasive cardiac surgery and the traditional full sternotomy. No differences were found in the occurrence of systemic inflammatory response syndrome between patients undergoing minimally invasive cardiac surgery and the traditional technique. Therefore it is concluded that minimally invasive surgery for patients with aortic valve disease may become the standard approach in the near future.

  16. Oral Manifestations of Chronic Kidney Disease and Renal Secondary Hyperparathyroidism: A Comparative Review.

    Science.gov (United States)

    Davis, Eric M

    2015-01-01

    Recent epidemiological studies have demonstrated that significant associations exist between oral disease and diseases involving non-oral tissues. Occasionally, the roles may be reversed and the oral cavity can be severely affected by systemic disease originating in another part of the body. Renal secondary hyperparathyroidism is a common endocrinopathy that occurs as a consequence of chronic azotemic kidney disease. Renal osteodystrophy, the most dramatic clinical consequence of renal secondary hyperparathyroidism is uncommon, but can result in demineralization of maxillofacial bones, loosening of teeth, and pathological jaw fractures. The purpose of this report is to update the current understanding of the pathophysiology of this endocrine disease and to compare the oral manifestations of renal secondary hyperparathyroidism in humans and companion animals. A 50-year review of the veterinary literature was undertaken to examine the clinical presentation of renal osteodystrophy in dogs, and to determine what clinical consequences of renal secondary hyperparathyroidism have been reported in domestic cats.

  17. Cardiovascular adaptation and cardiac disease in the elite athlete.

    Science.gov (United States)

    Del Río-santiago, Valentín; Santiago Trinidad, Ricardo; Vicenty Rivera, Sonia

    2012-01-01

    Cardiovascular diseases are uncommon among trained athletes. Their occurrences mostly depend on the individual's age and fitness levels. Adequate understanding of the cardiovascular adaptations undergone by the competitive athletes' heart is of paramount importance in order to differentiate them from serious cardiovascular conditions. Diagnosing these abnormalities early may prevent rare but devastating potential complications associated with athletic activities and defines appropriate activity restrictions to minimize the risk of sudden cardiac death. This article will review concerns related to competitive athlete's cardiovascular adaptations and diseases, in light of specific recommendations presented in the 36th Bethesda Conference guidelines.

  18. Cardiac arrhythmias as the initial manifestation of adult primary Sjögren's syndrome: a case report and literature review.

    Science.gov (United States)

    Liang, Minrui; Bao, Liwen; Xiong, Nanqing; Jin, Bo; Ni, Huanchun; Zhang, Jinjin; Zou, Hejian; Luo, Xinping; Li, Jian

    2015-09-01

    Two middle-aged female patients presenting with heart palpitation and electrocardiogram revealed complex cardiac arrhythmias. A review of systems was positive for dry mouth and transient arthralgia, while laboratory and instrumental tests enabled us to make the diagnosis of primary Sjögren's syndrome (pSS). Cardiac electrophysiology revealed atrioventricular node dysfunction and impaired intraventricular conduction. Prednisone therapy induced a significant improvement in symptoms and electrocardiographic readings. The diagnosis of pSS should be considered in a patient presenting with complex cardiac arrhythmias.

  19. Adherence to guideline-recommended therapies among patients with diverse manifestations of vascular disease

    Directory of Open Access Journals (Sweden)

    Chen DC

    2015-03-01

    Full Text Available Debbie C Chen,1 Ehrin J Armstrong,2 Gagan D Singh,1 Ezra A Amsterdam,1 John R Laird1 1Department of Internal Medicine, Vascular Center and Division of Cardiovascular Medicine, University of California, Davis, Sacramento, CA, USA; 2Division of Cardiology and VA Eastern Colorado Healthcare System, University of Colorado, Denver, CO, USA Background: Current guidelines recommend aspirin, statins, angiotensin-converting enzyme inhibitors (ACEIs, and smoking abstinence for all patients with vascular disease. There is little data on the variation in adherence to guideline-recommended therapies among patients with different clinical manifestations of vascular disease. Purpose: To analyze the variation in adherence to guideline-recommended therapies among patients with diverse manifestations of vascular disease. Methods: We analyzed a comprehensive database of all patients with critical limb ischemia, claudication, acute limb ischemia, carotid artery stenosis, subclavian artery stenosis, renal artery stenosis, or mesenteric ischemia who underwent angiography between 2006 and 2013 at a multidisciplinary vascular center. Results: Among 1,114 patients with vascular disease, adherence to guideline-recommended therapy at time of angiography included use of aspirin in 936 (84%, statins in 753 (68%, ACEIs in 673 (60%, and smoking abstinence in 788 (71%. A total of 335 (30% patients utilized all four guideline-recommended therapies. Adherence to four guideline-recommended therapies was lowest among patients with acute limb ischemia (14% and highest among patients with renal artery stenosis (37%. Among all patients with vascular disease, the range of adherence to individual guidelines was 64%–91% for aspirin, 43%–83% for statins, 49%–66% for ACEIs, and 47%–78% for smoking abstention. Conclusion: The majority of patients with diverse manifestations of vascular disease take aspirin and abstain from smoking while fewer patients are prescribed ACEIs and

  20. Fatty acids and cardiac disease: fuel carrying a message.

    Science.gov (United States)

    van Bilsen, M; Planavila, A

    2014-07-01

    From the viewpoint of the prevention of cardiovascular disease (CVD) burden, there has been a continuous interest in the detrimental effects of the Western-type high-fat diet for more than half a century. More recently, this general view has been subject to change as epidemiological studies showed that replacing fat by carbohydrate may even be worse and that various polyunsaturated fatty acids (FA) have beneficial rather than detrimental effects on CVD outcome. At the same time, advances in lipid biology have provided insight into the mechanisms by which the different lipid components of the Western diet affect the cardiovascular system. In fact, this still is a rapidly growing field of research and in recent years novel FA derivatives and FA receptors have been discovered. This includes fish-oil derived FA-derivatives with anti-inflammatory properties, the so-called resolvins, and various G-protein-coupled receptors that recognize FA as ligands. In the present review, we will extensively discuss the role of FA and their metabolites on cardiac disease, with special emphasis on the role of the different saturated and polyunsaturated FA and their respective metabolites in cellular signal transduction and the possible implications for the development of cardiac hypertrophy and cardiac failure.

  1. Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models

    Directory of Open Access Journals (Sweden)

    Lois Choy

    2016-09-01

    Full Text Available The mouse is the second mammalian species, after the human, in which substantial amount of the genomic information has been analyzed. With advances in transgenic technology, mutagenesis is now much easier to carry out in mice. Consequently, an increasing number of transgenic mouse systems have been generated for the study of cardiac arrhythmias in ion channelopathies and cardiomyopathies. Mouse hearts are also amenable to physical manipulation such as coronary artery ligation and transverse aortic constriction to induce heart failure, radiofrequency ablation of the AV node to model complete AV block and even implantation of a miniature pacemaker to induce cardiac dyssynchrony. Last but not least, pharmacological models, despite being simplistic, have enabled us to understand the physiological mechanisms of arrhythmias and evaluate the anti-arrhythmic properties of experimental agents, such as gap junction modulators, that may be exert therapeutic effects in other cardiac diseases. In this article, we examine these in turn, demonstrating that primary inherited arrhythmic syndromes are now recognized to be more complex than abnormality in a particular ion channel, involving alterations in gene expression and structural remodelling. Conversely, in cardiomyopathies and heart failure, mutations in ion channels and proteins have been identified as underlying causes, and electrophysiological remodelling are recognized pathological features. Transgenic techniques causing mutagenesis in mice are extremely powerful in dissecting the relative contributions of different genes play in producing disease phenotypes. Mouse models can serve as useful systems in which to explore how protein defects contribute to arrhythmias and direct future therapy.

  2. Manifestaciones reumatológicas de la enfermedad inflamatoria intestinal Rheumatologic manifestations of inflammatory bowel disease

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    Octavio Germán Muñoz Maya

    2006-01-01

    Full Text Available La enfermedad inflamatoria intestinal (EII se caracteriza por la activación inapropiada del sistema inmune de la mucosa intestinal y sus dos formas de presentación son: la colitis ulcerativa y la enfermedad de Crohn. Las manifestaciones extraintestinales se presentan hasta en el 36% de los pacientes y pueden comprometer cualquier órgano o sistema. La disfunción inmune se caracteriza por el desequilibrio entre los mediadores proinflamatorios y los antinflamatorios y se expresa como una enfermedad sistémica. Las manifestaciones reumatológicas asociadas a la EII son de tres tipos: la artritis periférica, la espondiloartropatía y una tercera categoría que incluye lesiones dérmicas, oftálmicas y del metabolismo óseo, entre otras. El manejo de estas manifestaciones se basa en la terapia sistémica para el control de la actividad inflamatoria local utilizando esteroides, derivados de la 5-ASA, inmunomoduladores y, en los últimos años, terapia anti-TNF. The main feature of inflammatory bowel disease (IBD is the continuous activation of the mucosa-associated immune system; the disease has two major forms of presentation: ulcerative colitis and Crohn´s disease. The extraintestinal manifestations are present in 36% of patients, and any organ can be affected. There is an imbalance between proinflammatory and antinflammatory cytokines leading to a systemic disease. The rheumatologic manifestations of the IBD are: Peripheral arthritis, spondyloarthropathy and a third category that includes dermic and ocular lesions as well as metabolic bone disease. Control of the extraintestinal manifestations is based on systemic therapy with steroids, 5-ASA derivatives and biological anti-TNF therapy.

  3. Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.

    Science.gov (United States)

    Kölker, Stefan; Burgard, Peter; Sauer, Sven W; Okun, Jürgen G

    2013-07-01

    This review focuses on the pathophysiology of organic acidurias (OADs), in particular, OADs caused by deficient amino acid metabolism. OADs are termed classical if patients present with acute metabolic decompensation and multiorgan dysfunction or cerebral if patients predominantly present with neurological symptoms but without metabolic crises. In both groups, however, the brain is the major target. The high energy demand of the brain, the gate-keeping function of the blood-brain barrier, a high lipid content, vulnerable neuronal subpopulations, and glutamatergic neurotransmission all make the brain particularly vulnerable against mitochondrial dysfunction, oxidative stress, and excitotoxicity. In fact, toxic metabolites in OADs are thought to cause secondary impairment of energy metabolism; some of these toxic metabolites are trapped in the brain. In contrast to cerebral OADs, patients with classical OADs have an increased risk of multiorgan dysfunction. The lack of the anaplerotic propionate pathway, synergistic inhibition of energy metabolism by toxic metabolites, and multiple oxidative phosphorylation (OXPHOS) deficiency may best explain the involvement of organs with a high energy demand. Intriguingly, late-onset organ dysfunction may manifest even under metabolically stable conditions. This might be explained by chronic mitochondrial DNA depletion, increased production of reactive oxygen species, and altered gene expression due to histone modification. In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially understood. More work is required to predict the risk and to elucidate the mechanism of late-onset organ dysfunction, extracerebral disease manifestation, and tumorigenesis.

  4. Cutaneous manifestations of adult-onset Still's disease: a case report and review of literature.

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    Cozzi, Alessandra; Papagrigoraki, Anastasia; Biasi, Domenico; Colato, Chiara; Girolomoni, Giampiero

    2016-05-01

    Adult onset Still's disease (AOSD) is a systemic inflammatory disorder of unknown etiology and pathogenesis characterized by high spiking fever, arthralgia or arthritis, sore throat, lymphadenopathy, hepatosplenomegaly, serositis, and transient cutaneous manifestations. Although more common in children, cases are seen also in adults. Cutaneous involvement is common and may be suggestive for the diagnosis. A case of AOSD in a 35-year-old man is reported here, presenting with urticarial maculopapular rash of trunk, high spiking fever, acute respiratory distress syndrome, and myopericarditis. Skin biopsy showed interstitial and perivascular mature CD15(+) neutrophils. A comprehensive review of literature showed that cutaneous involvement occurs in about 80 % of patients, with various clinical presentations. The most common skin manifestation is an evanescent salmon pink or erythematous maculopapular exanthema, predominantly on the trunk and proximal limbs, with rare involvement of face and distal limbs. Less common manifestations include persistent erythematous plaques and pustular lesions. A constant histopathologic finding is the presence of interstitial dermal neutrophils aligned between the collagen bundles. This pattern may provide an easy accessible clue for the definitive diagnosis of AOSD and exclude other diagnosis such as drug eruptions or infectious diseases.

  5. Osteoarticular manifestations of celiac disease and non-celiac gluten hypersensitivity.

    Science.gov (United States)

    Dos Santos, Stéphanie; Lioté, Frédéric

    2017-05-01

    Celiac disease is a chronic inflammatory autoimmune enteropathy based disorder that is triggered by the ingestion of gluten in genetically susceptible individuals. The global prevalence of 1% to 2% represents only the tip of the iceberg. The diagnosis is confirmed by positive specific antibody, anti-transglutaminase or anti-endomysium, specific lesions of the small intestine and a response to strict gluten-free diet. The diagnosis is difficult and often delayed because the clinical variability is very large, ranging from digestive clinical presentation "classic" to "atypical" symptoms, often extra-intestinal, that are sometimes attributed to a concomitant disease or a complication. Among them, there are frequent musculoskeletal manifestations such as osteoporosis and osteomalacia. In the absence of risk factor, osteoporosis, in a premenopausal women or in a man less than 55 years, more is if it is severe and refractory to medications, need to rheumatologists on the track of celiac disease in the absence of digestive symptoms. Osteomalacia is related to secondary hypovitaminosis D malabsorption. Supplementation by calcifediol, water-soluble vitamin D, may be indicated. Celiac disease is associated with an autoimmune disease in almost 1/3 of the cases. Knowing these potential associations allows earlier diagnosis in patients whose only manifestation, a concomitant disease. Anemia, chronic fatigue or unexplained polyarthralgia are symptoms associated with celiac disease to look for specific antibodies. The aim of early diagnosis is to prevent the emergence of other systemic disorders and avoid complications such as bone fractures and cancer, especially intestinal lymphoma. Non-celiac gluten intolerance is a new entity defined by symptomatology similar to that of celiac disease induced by the ingestion of gluten and disappearing after crowding-out, among patients without specific antibodies and without intestinal lesion of celiac disease. This entity is a cause, at

  6. A case of membranous nephropathy as a manifestation of graft-versus-host disease

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    Jae Hyun Han

    2013-03-01

    Full Text Available Nephrotic syndrome (NS rarely occurs after hematopoietic stem cell transplantation (HSCT as a late manifestation of graft-versus-host disease (GVHD. Herein, we report a case of HSCT-associated membranous nephropathy in a female patient with aplastic anemia. The patient received an allogeneic HSCT from her human leukocyte antigen-identical brother following myeloablative conditioning chemotherapy. NS occurred 21 months after HSCT without any concurrent features of chronic GVHD. The patient was treated with prednisolone and cyclosporine after renal biopsy confirmed membranous nephropathy, and achieved complete remission. Our report contradicts previous assumptions that concomitant chronic GVHD is responsible for the development of NS, suggesting that NS can develop as a new, independent manifestation of GVHD.

  7. Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

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    Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

    2017-08-08

    Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

  8. Unusual manifestations of Charcot-Marie-Tooth disease: A clinical observation

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    Akhila Kumar Panda

    2014-01-01

    Full Text Available Charcot-Marie-Tooth disease (CMT is the most common hereditary neuromuscular disorder. Careful assessment of clinical presentations, mode of inheritance, electrophysiological studies, and genetic analysis form the basis for the diagnosis of CMT. CMT4 is a group of progressive motor and sensory axonal demyelinating neuropathies. It is distinguished from other forms of CMT by autosomal recessive pattern of inheritance, variable clinical manifestations, electrophysiological study, nerve biopsy, and specific genetic studies. Here, we report an interesting case of hereditary neuropathy with recessive inheritance pattern who presented with combined clinical phenotypes of 4B1, 4C, and 4D subtypes. The histopathological study revealed onion bulb appearance suggestive of demyelination and remyelination phenomenon. The overlapping clinical manifestation may create a diagnostic challenge which would be confirmed by specific molecular analysis.

  9. Gaucher disease in children: radiology of non-central nervous system manifestations

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    McHugh, K. E-mail: kmchugh@gosh.nhs.uk; Olsen, Oe.E.; Vellodi, A

    2004-02-01

    The radiological findings in paediatric Gaucher disease (GD) are reviewed and future challenges for radiology are discussed. This overview is based on a literature review and our experience of children with GD in one of two national institutions for paediatric GD in the UK. GD is known to progress more rapidly in childhood. Current imaging is mainly suitable for ascertaining the complications of GD. The UK recommendations for routine radiological surveillance are discussed. With enzyme replacement therapy (ERT), which dramatically modifies the course of the disorder, the challenge for radiology in the future is likely to be assessing treatment efficacy rather than the detection of disease complications. Disease manifestations are likely to change in those on ERT and the most notable recent alteration in the disease profile in childhood is the virtual disappearance of the acute bone crisis in this population.

  10. [Gout as a systemic disease: systemic manifestations and comorbidities of hyperuricaemia].

    Science.gov (United States)

    Glasnović, Marija

    2012-01-01

    Gout is a recurrent inflammation of one or more joints that occurs because of disposal monosodium urate crystals in joints and other structures in soft tissues. Gout is a common metabolic disorder characterized by chronic hyperuricemia, serum urate levels > or = 360 mmol/1 (> 6.8 mg/ dl), which exceeds the physiological threshold of saturation. Well known complications of gout are tophi, deforming arthropathy, urolithiasis, chronic urate nephropathy, acute uric nephropathy (usually secondary due to chemotherapy), avascular necrosis of the femoral head. The risk of developing gout is directly linked to the development of hyperuricemia. Numerous evidence-based clinical and epidemiological study of urinary acid as an independent risk factor for developing hypertension, cardiovascular disease, chronic kidney disease, stroke and metabolic syndrome revalued the role of uric acid in human health and disease. In gout, as in other rheumatic disease, extraarticular manifestations are of utmost importance for morbidity and mortality.

  11. Analysis of risk factors and clinical manifestations associated with Clostridium difficile disease in Serbian hospitalized patients

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    Stojanović Predrag

    Full Text Available Abstract Clostridium difficile is the leading cause of infectious diarrhoea in hospitalized patients. The aim of this study was to determine the risk factors important for the development of hospital-acquired Clostridium difficile-associated disease and clinical manifestations of Clostridium difficile-associated disease. The clinical trial group included 37 hospitalized patients who were selected according to the inclusion criteria. A control group of 74 hospitalized patients was individually matched with cases based on hospital, age (within 4 years, sex and month of admission.Clostridium difficile-associated disease most commonly manifested as diarrhoea (56.76% and colitis (32%, while in 8.11% of patients, it was diagnosed as pseudomembranous colitis, and in one patient, it was diagnosed as fulminant colitis. Statistically significant associations (p < 0.05 were found with the presence of chronic renal failure, chronic obstructive pulmonary disease, cerebrovascular accident (stroke and haemodialysis. In this study, it was confirmed that all the groups of antibiotics, except for tetracycline and trimethoprim-sulfamethoxazole, were statistically significant risk factors for Clostridium difficile-associated disease (p < 0.05. However, it was difficult to determine the individual role of antibiotics in the development of Clostridium difficile-associated disease. Univariate logistic regression also found that applying antibiotic therapy, the duration of antibiotic therapy, administration of two or more antibiotics to treat infections, administering laxatives and the total number of days spent in the hospital significantly affected the onset of Clostridium difficile-associated disease (p < 0.05, and associations were confirmed using the multivariate model for the application of antibiotic therapy (p = 0.001, duration of antibiotic treatment (p = 0.01, use of laxatives (p = 0.01 and total number of days spent in the hospital (p = 0.001. In this study

  12. Anesthesia and Databases: Pediatric Cardiac Disease as a Role Model.

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    Vener, David F; Pasquali, Sara K; Mossad, Emad B

    2017-02-01

    Large data sets have now become ubiquitous in clinical medicine; they are particularly useful in high-acuity, low-volume conditions such as congenital heart disease where data must be collected from many centers. These data fall into 2 categories: administrative data arising from hospital admissions and charges and clinical data relating to specific diseases or procedures. In congenital cardiac diseases, there are now over a dozen of these data sets or registries focusing on various elements of patient care. Using probabilistic statistic matching, it is possible to marry administrative and clinical data post hoc using common elements to determine valuable information about care patterns, outcomes, and costs. These data sets can also be used in a collaborative fashion between institutions to drive quality improvement (QI). Because these data may include protected health information (PHI), care must be taken to adhere to federal guidelines on their use. A fundamental principle of large data management is the use of a common language and definition (nomenclature) to be effective. In addition, research derived from these information sources must be appropriately balanced to ensure that risk adjustments for preoperative and surgical factors are taken into consideration during the analysis. Care of patients with cardiac disease both in the United States and abroad consistently shows wide variability in mortality, morbidity, and costs, and there has been a tremendous amount of discussion about the benefits of regionalization of care based on center volume and outcome measurements. In the absence of regionalization, collaborative learning techniques have consistently been shown to minimize this variability and improve care at all centers, but before changes can be made it is necessary to accurately measure accurately current patient outcomes. Outcomes measurement generally falls under hospital-based QI initiatives, but more detailed analysis and research require

  13. Cardiac anaplerosis in health and disease: food for thought.

    Science.gov (United States)

    Des Rosiers, Christine; Labarthe, François; Lloyd, Steven G; Chatham, John C

    2011-05-01

    There has been a resurgence of interest for the field of cardiac metabolism catalysed by the increased need for new therapeutic targets for patients with heart failure. The primary focus of research in this area to date has been on the impact of substrate selection for oxidative energy metabolism; however, anaplerotic metabolism also has significant interest for its potential cardioprotective role. Anaplerosis refers to metabolic pathways that replenish the citric acid cycle intermediates, which are essential to energy metabolism; however, our understanding of the role and regulation of this process in the heart, particularly under pathophysiological conditions, is very limited. Therefore, the goal of this article is to provide a foundation for future directions of research on cardiac anaplerosis and heart disease. We include an overview of anaplerotic metabolism, a critical evaluation of current methods available for its quantitation in the intact heart, and a discussion of its role and regulation both in health and disease as it is currently understood based mostly on animal studies. We also consider genetic diseases affecting anaplerotic pathways in humans and acute intervention studies with anaplerotic substrates in the clinics. Finally, as future perspectives, we will share our thoughts about potential benefits and practical considerations on modalities of interventions targeting anaplerosis in heart disease, including heart failure.

  14. Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

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    Roxane Labrosse

    2017-09-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immune deficiency caused by mutations in genes coding for components of the nicotinamide adenine dinucleotide phosphate oxidase, characterized by severe and recurrent bacterial and fungal infections, together with inflammatory complications. Dysregulation of inflammatory responses are often present in this disease and may lead to granulomatous lesions, most often affecting the gastrointestinal (GI and urinary tracts. Treatment of inflammatory complications usually includes corticosteroids, whereas antimicrobial prophylaxis is used for infection prevention. Curative treatment of both infectious susceptibility and inflammatory disease can be achieved by hematopoietic stem cell transplantation. We report herein three patients with the same mutation of the CYBB gene who presented with very early-onset and severe GI manifestations of X-linked CGD. The most severely affected patient had evidence of antenatal inflammatory involvement of the GI and urinary tracts. Extreme hyperleukocytosis with eosinophilia and high inflammatory markers were observed in all three patients. A Mycobacterium avium lung infection and an unidentified fungal lung infection occurred in two patients both during their first year of life, which is indicative of the severity of the disease. All three patients underwent bone marrow transplantation and recovered fully from their initial symptoms. To our knowledge, these are the first reports of patients with such an early-onset and severe inflammatory manifestations of CGD.

  15. Tumor Necrosis Factor Is a Therapeutic Target for Immunological Unbalance and Cardiac Abnormalities in Chronic Experimental Chagas' Heart Disease

    Science.gov (United States)

    Pereira, Isabela Resende; Vilar-Pereira, Glaucia; Silva, Andrea Alice; Moreira, Otacilio Cruz; Britto, Constança; Sarmento, Ellen Diana Marinho

    2014-01-01

    Background. Chagas disease (CD) is characterized by parasite persistence and immunological unbalance favoring systemic inflammatory profile. Chronic chagasic cardiomyopathy, the main manifestation of CD, occurs in a TNF-enriched milieu and frequently progresses to heart failure. Aim of the Study. To challenge the hypothesis that TNF plays a key role in Trypanosoma cruzi-induced immune deregulation and cardiac abnormalities, we tested the effect of the anti-TNF antibody Infliximab in chronically T. cruzi-infected C57BL/6 mice, a model with immunological, electrical, and histopathological abnormalities resembling Chagas' heart disease. Results. Infliximab therapy did not reactivate parasite but reshaped the immune response as reduced TNF mRNA expression in the cardiac tissue and plasma TNF and IFNγ levels; diminished the frequency of IL-17A+ but increased IL-10+ CD4+ T-cells; reduced TNF+ but augmented IL-10+ Ly6C+ and F4/80+ cells. Further, anti-TNF therapy decreased cytotoxic activity but preserved IFNγ-producing VNHRFTLV-specific CD8+ T-cells in spleen and reduced the number of perforin+ cells infiltrating the myocardium. Importantly, Infliximab reduced the frequency of mice afflicted by arrhythmias and second degree atrioventricular blocks and decreased fibronectin deposition in the cardiac tissue. Conclusions. Our data support that TNF is a crucial player in the pathogenesis of Chagas' heart disease fueling immunological unbalance which contributes to cardiac abnormalities. PMID:25140115

  16. Simultaneous surgery in patients with both cardiac and noncardiac diseases

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    Yang Y

    2016-07-01

    Full Text Available Yang Yang,1 Feng Xiao,1 Jin Wang,1 Bo Song,1 Xi-Hui Li,1 Jian Li,2 Zhi-Song He,3 Huan Zhang,4 Ling Yin5 1Department of Cardiac Surgery, 2Department of Thoracic Surgery, 3Department of Urology Surgery, 4Department of General Surgery, 5Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, People’s Republic of China Background: To investigate the possibility and feasibility of simultaneous cardiac and noncardiac surgery.Methods: From August 2000 to March 2015, 64 patients suffering from cardiac and noncardiac diseases have been treated by simultaneous surgeries.Results: Two patients died after operations in hospital; thus, the hospital mortality rate was 3.1%. One patient with coronary heart disease, acute myocardial infarction, and a recurrence of bladder cancer accepted emergency simultaneous coronary artery bypass grafting (CABG, bladder cystectomy, and ureterostomy. He died of acute cerebral infarction complicated with multiple organ failure on the 153rd day after operation. The other patient with chronic constrictive pericarditis and right lung cancer underwent pericardial stripping and right lung lower lobectomy, which resulted in multiple organ failure, and the patient died on the tenth day postoperatively. The remaining 62 patients recovered and were discharged. The total operative morbidity was 17.2%: postoperative hemorrhage (n, % [1, 1.6%], pulmonary infection and hypoxemia (2, 3.1%, hemorrhage of upper digestive tract (1, 1.6%, incisional infection (3, 4.7%, subphrenic abscess (1, 1.6%, and postoperative acute renal failure and hemofiltration (3, 4.7%. Of the 62 patients discharged, 61 patients were followed up. Eleven patients died with 10 months to 10 years during the follow-up. The mean survival time is 116.2±12.4 months. The cumulative survival rate is 50.8%.Conclusion: Simultaneous surgeries in patients suffering from both cardiac and noncardiac benign or malignant diseases are safe and possible

  17. Probable late lyme disease: a variant manifestation of untreated Borrelia burgdorferi infection

    Science.gov (United States)

    2012-01-01

    Background Lyme disease, a bacterial infection with the tick-borne spirochete Borrelia burgdorferi, can cause early and late manifestations. The category of probable Lyme disease was recently added to the CDC surveillance case definition to describe patients with serologic evidence of exposure and physician-diagnosed disease in the absence of objective signs. We present a retrospective case series of 13 untreated patients with persistent symptoms of greater than 12 weeks duration who meet these criteria and suggest a label of ‘probable late Lyme disease’ for this presentation. Methods The sample for this analysis draws from a retrospective chart review of consecutive, adult patients presenting between August 2002 and August 2007 to the author (JA), an infectious disease specialist. Patients were included in the analysis if their current illness had lasted greater than or equal to 12 weeks duration at the time of evaluation. Results Probable late Lyme patients with positive IgG serology but no history of previous physician-documented Lyme disease or appropriate Lyme treatment were found to represent 6% of our heterogeneous sample presenting with ≥ 12 weeks of symptom duration. Patients experienced a range of symptoms including fatigue, widespread pain, and cognitive complaints. Approximately one-third of this subset reported a patient-observed rash at illness onset, with a similar proportion having been exposed to non-recommended antibiotics or glucocorticosteroid treatment for their initial disease. A clinically significant response to antibiotics treatment was noted in the majority of patients with probable late Lyme disease, although post-treatment symptom recurrence was common. Conclusions We suggest that patients with probable late Lyme disease share features with both confirmed late Lyme disease and post-treatment Lyme disease syndrome. Physicians should consider the recent inclusion of probable Lyme disease in the CDC Lyme disease surveillance

  18. Cutaneous Manifestations in Patients with Chronic Kidney Disease on Maintenance Hemodialysis

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    Kolla, Praveen Kumar; Desai, Madhav; Pathapati, Ram Mohan; Mastan Valli, B.; Pentyala, Suneetha; Madhusudhan Reddy, G.; Vijaya Mohan Rao, A.

    2012-01-01

    Cutaneous disorders can precede or follow the initiation of hemodialysis treatment. We evaluated the prevalence of various dermatological manifestations in patients undergoing hemodialysis at least twice a week for minimum of three months at our center. Patients were excluded if they were undergoing hemodialysis less than twice a week or on hemodialysis secondary to ESRD following graft dysfunction. One hundred and forty-three patients were evaluated. Among them, there were 113 male and 30 females. Among the skin changes, pruritus accounted for 56%, Xerosis was observed in 52%, Diffuse blackish hyper pigmentation was seen in 40%. Skin infections was seen in 53% of patients, of these fungal, bacterial and viral infections were 27.2%, 14.6%, and 11.2%, respectively. Kyrle's disease was observed only in 6.9%. Other skin manifestations include eczema 4.8%, psoriasis 2.7%, and drug rash 2.1%. Nail changes were observed in 46 patients of whom 27 patients had onychomycosis. Other changes include discoloration, onycholysis, and splinter hemorrhages. Hair changes were observed in 21.7%. Mucosal changes were seen in 27.3%. In our study, pruritus, xerosis, and pigmentation were higher among skin changes. Recognition and management of some of these dermatological manifestations vastly reduce the morbidity and improve the quality of life. PMID:22830039

  19. A rare case of extra nodal Rosai-Dorfman disease with isolated multifocal osseous manifestation

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    Maharshi H Patel

    2015-01-01

    Full Text Available Sinus histiocytosis with massive lymphadenopathy (SHML or Rosai-Dorfman disease is a non-neoplastic condition which typically presents as massive, bilateral cervical lymphadenopathy and can involve multiple extranodal organ systems such as skin, eyes, and upper respiratory tract in about 28% cases. Bone lesions in association with nodal disease are seen in less than 10% cases. Isolated bone involvement as the only manifestation of SHML is extremely rare, with less than 50 cases reported in the literature. We report a very uncommon case of Rosai-Dorfman disease with isolated multifocal osseous involvement as the only presenting feature, involving about 10 different sites with no lymphadenopathy or other organ system involvement.

  20. CUTANEOUS MANIFESTATIONS IN PATIENTS UNDERGOING HAEMODIALYSIS FOR END STAGE RENAL DISEASE

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    Gupta

    2015-04-01

    Full Text Available OBJECTIVE: To determine the frequency of cutaneous lesions in patients of chronic kidney disease (CKD undergoing haemodialysis. MATERIALS AND METHODS: 100 patients of CKD undergoing haemodialysis in the renal dialysis unit of R. L. Jalappa Hospital, Kolar . An informed consent was taken. Detailed history was taken and examination were carried out, noted and entered in a structured proforma. RESULTS: Out of 100 patients evaluated, 94% had skin changes. 68% patients were males and 32% were females. The most prevalent finding was pallor in 84% followed by xerosis present in 72% patients. Platynychia was seen in 48% with other findings being pigmentation chan ges, sparse hair and various nail changes. CONCLUSION: Chronic kidney disease is associated with complex array of cutaneous manifestations caused either by disease or treatment. The commonest are pallor, xerosis and platynychia in our study.

  1. Contemporary cardiac surgery for adults with congenital heart disease.

    Science.gov (United States)

    Beurtheret, Sylvain; Tutarel, Oktay; Diller, Gerhard Paul; West, Cathy; Ntalarizou, Evangelia; Resseguier, Noémie; Papaioannou, Vasileios; Jabbour, Richard; Simpkin, Victoria; Bastin, Anthony J; Babu-Narayan, Sonya V; Bonello, Beatrice; Li, Wei; Sethia, Babulal; Uemura, Hideki; Gatzoulis, Michael A; Shore, Darryl

    2017-08-01

    Advances in early management of congenital heart disease (CHD) have led to an exponential growth in adults with CHD (ACHD). Many of these patients require cardiac surgery. This study sought to examine outcome and its predictors for ACHD cardiac surgery. This is an observational cohort study of prospectively collected data on 1090 consecutive adult patients with CHD, undergoing 1130 cardiac operations for CHD at the Royal Brompton Hospital between 2002 and 2011. Early mortality was the primary outcome measure. Midterm to longer-term survival, cumulative incidence of reoperation, other interventions and/or new-onset arrhythmia were secondary outcome measures. Predictors of early/total mortality were identified. Age at surgery was 35±15 years, 53% male, 52.3% were in New York Heart Association (NYHA) class I, 37.2% in class II and 10.4% in class III/IV. Early mortality was 1.77% with independent predictors NYHA class ≥ III, tricuspid annular plane systolic excursion (TAPSE) <15 mm and female gender. Over a mean follow-up of 2.8±2.6 years, 46 patients died. Baseline predictors of total mortality were NYHA class ≥ III, TAPSE <15 mm and non-elective surgery. The number of sternotomies was not independently associated with neither early nor total mortality. At 10 years, probability of survival was 94%. NYHA class among survivors was significantly improved, compared with baseline. Contemporary cardiac surgery for ACHD performed at a single, tertiary reference centre with a multidisciplinary approach is associated with low mortality and improved functional status. Also, our findings emphasise the point that surgery should not be delayed because of reluctance to reoperate only. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  2. Cardiac autonomic testing and diagnosing heart disease. 'A clinical perspective'

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    Nicholas L. DePace

    2014-12-01

    Full Text Available Background Coronary heart disease (CHD is a major health concern, affecting nearly half the middle-age population and responsible for nearly one-third of all deaths. Clinicians have responsibilities beyond diagnosing CHD, including risk stratification of patients for major adverse cardiac events (MACE, modifying the risks and treating the patient. In this first of a two-part review, identifying risk factors is reviewed, including more potential benefit from autonomic testing. Methods Traditional and non-traditional, and modifiable and non-modifiable risk factors for MACE where compared, including newer risk factors, such as inflammation, carotid intimal thickening, ankle-brachial index, CT calcium scoring, and autonomic function testing, specifically independent measurement of parasympathetic and sympathetic (P&S activity. Results The Framingham Heart Study, and others, have identified traditional risk factors for the development of CHD. These factors effectively target high-risk patients, but a large number of individuals who will develop CHD and MACE are not identified. Many patients with CHD who appear to be well-managed by traditional therapies still experience MACE. In order to identify these patients, other possible risk factors have been explored. Advanced autonomic dysfunction, and its more severe form, cardiac autonomic neuropathy, have been strongly associated with an elevated risk of cardiac mortality and are diagnosable through P&S testing. Conclusions Independent measures of P&S activity, provides additional information and has the potential to incrementally add to risk assessment. This additional information enables physicians to (1 specifically target more high-risk patients and (2 titrate therapies, with autonomic testing guidance, in order to minimize risk of cardiac mortality and morbidity.

  3. Cardiopulmonary Manifestations of Ankylosing Spondylitis

    Science.gov (United States)

    Momeni, Mahnaz; Taylor, Nora; Tehrani, Mahsa

    2011-01-01

    Ankylosing spondylitis is a chronic inflammatory condition that usually affects young men. Cardiac dysfunction and pulmonary disease are well-known and commonly reported extra-articular manifestation, associated with ankylosing spondylitis (AS). AS has also been reported to be specifically associated with aortitis, aortic valve diseases, conduction disturbances, cardiomyopathy and ischemic heart disease. The pulmonary manifestations of the disease include fibrosis of the upper lobes, interstitial lung disease, ventilatory impairment due to chest wall restriction, sleep apnea, and spontaneous pneumothorax. They are many reports detailing pathophysiology, hypothesized mechanisms leading to these derangements, and estimated prevalence of such findings in the AS populations. At this time, there are no clear guidelines regarding a stepwise approach to screen these patients for cardiovascular and pulmonary complications. PMID:21547038

  4. Cardiopulmonary Manifestations of Ankylosing Spondylitis

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    Mahnaz Momeni

    2011-01-01

    Full Text Available Ankylosing spondylitis is a chronic inflammatory condition that usually affects young men. Cardiac dysfunction and pulmonary disease are well-known and commonly reported extra-articular manifestation, associated with ankylosing spondylitis (AS. AS has also been reported to be specifically associated with aortitis, aortic valve diseases, conduction disturbances, cardiomyopathy and ischemic heart disease. The pulmonary manifestations of the disease include fibrosis of the upper lobes, interstitial lung disease, ventilatory impairment due to chest wall restriction, sleep apnea, and spontaneous pneumothorax. They are many reports detailing pathophysiology, hypothesized mechanisms leading to these derangements, and estimated prevalence of such findings in the AS populations. At this time, there are no clear guidelines regarding a stepwise approach to screen these patients for cardiovascular and pulmonary complications.

  5. The role of cardiac magnetic resonance in valvular heart disease.

    Science.gov (United States)

    Lopez-Mattei, Juan C; Shah, Dipan J

    2013-01-01

    The prevalence of valvular heart disease is increasing as the population ages. In diagnosing individuals with valve disease, echocardiography is the primary imaging modality used by clinicians both for initial assessment and for longitudinal evaluation. However, in some cases cardiovascular magnetic resonance has become a viable alternative in that it can obtain imaging data in any plane prescribed by the scan operator, which makes it ideal for accurate investigation of all cardiac valves: aortic, mitral, pulmonic, and tricuspid. In addition, CMR for valve assessment is noninvasive, free of ionizing radiation, and in most instances does not require contrast administration. The objectives of a comprehensive CMR study for evaluating valvular heart disease are threefold: (1) to provide insight into the mechanism of the valvular lesion (via anatomic assessment), (2) to quantify the severity of the valvular lesion, and (3) to discern the consequences of the valvular lesion.

  6. [Clinical manifestations of "Hunger Disease" among children in the ghettos during the Holocaust].

    Science.gov (United States)

    Hercshlag-Elkayam, Orit; Even, Lea; Shasha, Shaul M

    2003-05-01

    The harsh life in the ghettos were characterized by overcrowding, shortage of supplies (e.g. money, sanitation, medications), poor personal hygiene, inclement weather and exhaustion. Under these conditions, morbidity was mainly due to infectious diseases, both endemic and epidemic outbreaks with a high mortality rate. The dominant feature was hunger. Daily caloric allowance was 300-800, and in extreme cases (i.e. Warsaw ghetto) it was only 200 calories. The food was lacking important nutrients (e.g. vitamins, trace elements) leading to protean clinical expression, starvation and death. The clinical manifestations of starvation were referred to as "the Hunger Disease", which became the subject of research by the medical doctors in the ghettos, mainly in the Warsaw ghetto in which a thorough documentation and research were performed. The first victims of hunger were children. First they failed to thrive physically and later mentally. Like their elders, they lost weight, but later growth stopped and their developmental milestones were lost with the loss of curiosity and motivation to play. The mortality rate among babies and infants was 100%, as was described by the ghetto doctors: "when the elder children got sick, the small ones were already dead...". In the last weeks of the ghettos there were no children seen in the streets. In this article the environmental conditions and daily life of children in the ghettos are reviewed, and the manifestations of "Hunger Disease" among them is scrutinized.

  7. Pulmonary Nodules as an Initial Manifestation of Behçet’s Disease

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    M. Malekmohammad

    2014-01-01

    Full Text Available Behçet’s disease (BD is a systemic vasculopathy, characterized by recurrent oral aphthae, genital ulcers, uveitis, and skin lesions. Although vascular involvement, including venous and arteries of any size, is a usual manifestation, cases with pulmonary thrombosis as the initial symptom are not common in the absence of pulmonary artery aneurysm (PAA. This report describes a 36-year-old man with recurrent fever, nonmassive hemoptysis, and persistent cough with lung nodules in CT scan who had undergone open lung biopsy. On the basis of morphological findings, BD was suggested and more precise evaluation confirmed the diagnosis.

  8. Coagulopathy as initial manifestation of concomitant celiac disease and cystic fibrosis: a case report

    Directory of Open Access Journals (Sweden)

    Zdraveska Nikolina

    2011-03-01

    Full Text Available Abstract Introduction Celiac disease and cystic fibrosis have many common manifestations, such as malabsorption, steatorrhea and growth failure, and were for many years recognized as one clinical entity. Since their recognition as two separate diseases, their co-existence in a patient has been described sporadically; around 20 cases have been described in the literature. Taking into consideration the incidences of the two diseases, the chance of them occurring together is one in 2,000,000 in the general population. Case presentation We describe the case of a five-year-old boy of Turkish ethnicity with both celiac disease and cystic fibrosis, who presented initially with a skin hemorrhage. The diagnosis of celiac disease was made with a positive serum anti-tissue transglutaminase antibody test and the presence of HLA-DQ2 heterodimer, and confirmed on histology with small intestinal villous atrophy. A positive sweat test confirmed the diagnosis of associated cystic fibrosis. To the best of our knowledge there has been no previous report of this rare presentation of associated celiac disease and cystic fibrosis. Conclusion The clinical significance of this case is the consideration of malabsorption with both celiac disease and cystic fibrosis in patients who present with unexplained coagulopathy.

  9. Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Mikosch, P. [State Hospital Klagenfurt (Austria). Dept. of Nuclear Medicine and Endocrinology, PET Center]|[State Hospital Klagenfurt (Austria). Dept. of Internal Medicine II; Kohlfuerst, S.; Gallowitsch, H.J.; Kresnik, E.; Lind, P. [State Hospital Klagenfurt (Austria). Dept. of Nuclear Medicine and Endocrinology, PET Center; Mehta, A.B.; Hughes, D.A. [Royal Free and University College Medical School, London (United Kingdom). Dept. of Academic Haematology

    2008-07-01

    Gaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme {beta}-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods. (orig.)

  10. Cardiac expression of ms1/STARS, a novel gene involved in cardiac development and disease, is regulated by GATA4.

    Science.gov (United States)

    Ounzain, Samir; Kobayashi, Satoru; Peterson, Richard E; He, Aibin; Motterle, Anna; Samani, Nilesh J; Menick, Donald R; Pu, William T; Liang, Qiangrong; Chong, Nelson W

    2012-05-01

    Ms1/STARS is a novel muscle-specific actin-binding protein that specifically modulates the myocardin-related transcription factor (MRTF)-serum response factor (SRF) regulatory axis within striated muscle. This ms1/STARS-dependent regulatory axis is of central importance within the cardiac gene regulatory network and has been implicated in cardiac development and postnatal cardiac function/homeostasis. The dysregulation of ms1/STARS is associated with and causative of pathological cardiac phenotypes, including cardiac hypertrophy and cardiomyopathy. In order to gain an understanding of the mechanisms governing ms1/STARS expression in the heart, we have coupled a comparative genomic in silico analysis with reporter, gain-of-function, and loss-of-function approaches. Through this integrated analysis, we have identified three evolutionarily conserved regions (ECRs), α, SINA, and DINA, that act as cis-regulatory modules and confer differential cardiac cell-specific activity. Two of these ECRs, α and DINA, displayed distinct regulatory sensitivity to the core cardiac transcription factor GATA4. Overall, our results demonstrate that within embryonic, neonatal, and adult hearts, GATA4 represses ms1/STARS expression with the pathologically associated depletion of GATA4 (type 1/type 2 diabetic models), resulting in ms1/STARS upregulation. This GATA4-dependent repression of ms1/STARS expression has major implications for MRTF-SRF signaling in the context of cardiac development and disease.

  11. Quantitative cardiac-cineangiography in acquired valvular heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Han, M. C.; Lim, T. M [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1980-12-15

    For the determination of the prognosis of the acquired valvular heart disease, many diagnostic tools such as, echocardiogram, computerized RI cardiac scan, cardiac catheterization and cardiac angiography are now widely used. Among these, the cineangiography offers the most accurate and objective values in quantitation of the left ventricular performance, which is thought to be an essential prognostic factor of the valvular heart disease. Although many authors differ their opinions, increased end diastolic volume is generally understood in two ways: The one as an indicator of compensatory mechanism for the changed hemodynamics of the heart and the other as a parameter of deteriorated left ventricular performance. Authors analyzed EDV, ESV, EF, EDP and angiographic grade of regurgitation in 97 cases of the acquired valvular heart disease and results are as follows. 1. Mean EDVs are 226.2 ml/m{sup 2} in AI + MI, 167.2 ml/m{sup 2} in AI, 155.6 ml/m{sup 2} in MI and 98.3 ml/m{sup 2} in MS respectively. 2. Mean ESVs are 101.1 ml/m{sup 2} in AI + MI, 84.1 ml/m{sup 2} in AI, 66.5 ml/m{sup 2} in MI and 46.4 ml/m{sup 2} in MS respectively. 3. Mean EFs are 0.56 in AI + MI, 0.55 in AI, 0.57 in MI and 0.54 in MS respectively. 4. There are higher correlations between ESV and EF than between EDV and EF. 5. There are no significant correlation between EDP and EDV in all disease entities except AI, in which large EDV relatively correlates with high EDP. 6. In AI, EDV, ESV, EF and angiographic grade of regurgitation show close correlations between each other. 7. In MI with higher grade of regurgitation, ESV seems to be more sensitive indicator of left ventricular performance than EF. In MI with lower grade of regurgitation, EF seems to be more sensitive indicator of left ventricular performance than ESV. 8. In AI + MI, EDV, ESV and EDP show higher values than in any other disease involving single valve alone, but there are no correlations between ventricular volumes and grades of

  12. The changing faces of IgG4-related disease: Clinical manifestations and pathogenesis.

    Science.gov (United States)

    Islam, Arshia Duza; Selmi, Carlo; Datta-Mitra, Ananya; Sonu, Rebecca; Chen, Mingyi; Gershwin, M Eric; Raychaudhuri, Siba P

    2015-10-01

    Since the earliest reports in 2001, immunoglobulin G4 (IgG4)-related disease has been defined as an autoimmune systemic disease characterized by the lymphoplasmacytic infiltration of affected tissues leading to fibrosis and obliterative phlebitis along with elevated serum IgG4 levels. Prior to this unifying hypothesis, a plethora of clinical manifestations were considered as separate entities despite the similar laboratory profile. The pathology can be observed in virtually all organs and may thus be a challenging diagnosis, especially when the adequate clinical suspicion is not present or when obtaining a tissue biopsy is not feasible. Nonetheless, the most frequently involved organs are the pancreas and exocrine glands but these may be spared. Immunosuppressants lead to a prompt clinical response in virtually all cases and prevent histological sequelae and, as a consequence, an early differential diagnosis from other conditions, particularly infections and cancer, as well as an early treatment should be pursued. We describe herein two cases in which atypical disease manifestations were observed, i.e., one with recurrent neck lymph node enlargement and proptosis, and one with jaundice. Our understanding of the pathogenesis of IgG4-related disease is largely incomplete but data support a significant role for Th2 cytokines with the contribution of innate immunity factors such as Toll-like receptors, macrophages and basophils. Further, macrophages activated by IL4 overexpress B cell activating factors and contribute to chronic inflammation and the development of fibrosis. We cannot rule out the possibility that the largely variable disease phenotypes reflect different pathogenetic mechanisms and the tissue microenvironment may then contribute to the organ involvement.

  13. Cardiac transplantation for amyloid heart disease: the United Kingdom experience.

    Science.gov (United States)

    Dubrey, Simon W; Burke, Margaret M; Hawkins, Philip N; Banner, Nicholas R

    2004-10-01

    Heart transplantation (TX) for cardiac amyloidosis is uncommon because of concern about progression of amyloid in other organs and the possibility of amyloid deposition in the donor heart. Records of all 24 patients with amyloid heart disease who have undergone TX in the United Kingdom were examined. Seventeen patients had AL amyloidosis (AL) and 7 had non-AL forms of amyloidosis (non-AL). Survival of the 10 patients with AL who underwent TX but had no additional chemotherapy was 50%, 50%, and 20% at 1, 2, and 5 years, respectively; amyloid recurred in the grafts of these patients after a median of 11 months, and extra-cardiac amyloid deposition contributed to mortality in 70% of these patients. Survival of 7 patients with AL who also had chemotherapy was 71%, 71%, and 36% respectively and 2 patients remain alive. Survival of the 7 patients with non-AL was 86%, 86%, and 64% at 1, 2, and 5 years, respectively; 5 patients remain alive. One patient from this group had recurrence of amyloid in the graft at 60 months. Five-year survival for all 24 amyloid patients was 38%, compared to patients undergoing TX in the UK for other indications (n = 4,058) for whom it was 67% (p = 0.013). Regardless of the use of adjunctive chemotherapy, the 5-year survival after TX for cardiac AL amyloidosis was less than that after TX for other indications, and progression of the systemic disease contributed substantially to the increased mortality. In contrast, the 5-year survival after TX for non-AL amyloid, combined as necessary with liver or kidney TX, was similar to that after TX in general.

  14. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

    Science.gov (United States)

    McGovern, Margaret M; Avetisyan, Ruzan; Sanson, Bernd-Jan; Lidove, Olivier

    2017-02-23

    Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely. Almost all patients have hepatosplenomegaly and an atherogenic lipid profile, and most patients have interstitial lung disease with progressive impairment of pulmonary function and hematologic abnormalities including cytopenias. Other common clinical manifestations include liver dysfunction, heart disease, skeletal abnormalities and growth delays. Some patients with ASMD who survive beyond early childhood have intermediate phenotypes (variant NPD B) characterized by combinations of non-neurologic and mild to severe neurologic symptoms. The physical and psychosocial burden of illness in patients with NPD B is substantial. Common symptoms include shortness of breath, joint or limb pain, abdominal pain, bleeding and bruising. The disease often leads to chronic fatigue, limited physical or social activity and difficulties in performing daily activities or work. Many patients die before or in early adulthood, often from pneumonia/respiratory failure or liver failure. Available treatments are limited to symptom management and supportive care. An enzyme replacement therapy currently in clinical development is expected to be the first treatment addressing the underlying pathology of the disease. Early diagnosis and appropriate management are essential for reducing the risk of complications. While knowledge about ASMD is evolving, more evidence about ASMD and the natural history across the disease spectrum is needed, to improve

  15. Longitudinal Change in Gait and Motor Function in Pre-manifest Huntington's Disease.

    Science.gov (United States)

    Rao, Ashwini K; Mazzoni, Pietro; Wasserman, Paula; Marder, Karen

    2011-10-04

    The purpose of this study was to examine longitudinal change in gait and motor function in pre-manifest Huntington's disease (HD).We examined ten pre-manifest subjects at baseline, one and five years. Quantitative gait data were collected with an electronic mat (GAITRite®). We analyzed measures related to speed (velocity, step length, cadence), asymmetry (step length difference), dynamic balance (percent time in double support, support base) and variability in stride length and swing time. Motor function was assessed with the motor component of the Unified Huntington's Disease Rating Scale.Gait velocity decreased (p=0.001), whereas step length difference (p=0.006), stride length variability (p=0.0001) and swing time variability increased (p=0.0001) from baseline to year five. Step length difference (pgait analysis was able to detect changes in gait speed, symmetry and variability. Swing time variability was particularly important because it increased in one year from baseline and was correlated with estimated time to diagnosis. Our results highlight the importance of predictive outcomes such as gait variability using quantitative analysis.

  16. [Complete atrioventricular block as the first clinical manifestation of a tick bite (Lyme disease)].

    Science.gov (United States)

    Bacino, Luca; Gazzarata, Massimo; Siri, Giambattista; Cordone, Stefano; Bellotti, Paolo

    2011-03-01

    A 52-year-old male patient presented to the emergency department because of malaise and frequent dizziness. The ECG revealed high-grade atrioventricular block that required placement of a temporary pacemaker. There were no other abnormalities in physical and echocardiographic examination, and coronary angiography excluded the presence of coronary artery disease. IgM and IgG antibodies against Borrelia were positive, and antibiotic therapy with ceftriaxone at the dose of 2 g/die for 15 days resulted in rapid regression of atrioventricular block. Seven-day ECG recording immediately after discharge and 24h ECG monitoring at 40 days confirmed the total disappearance of atrioventricular block. This represents a case of atrioventricular block as the first manifestation of Borrelia infection (Lyme disease). A prompt diagnosis and antibiotic therapy usually result in complete resolution of atrioventricular block without the need for a permanent pacemaker.

  17. Cardiac resynchronization therapy in congenital heart disease.

    Science.gov (United States)

    Janoušek, Jan; Kubuš, Peter

    2016-06-01

    Cardiac resynchronization therapy (CRT) is an established treatment option for adult patients suffering heart failure due to idiopathic or ischemic cardiomyopathy associated with electromechanical dyssynchrony. There is limited evidence suggesting similar efficacy of CRT in patients with congenital heart disease (CHD). Due to the heterogeneity of structural and functional substrates, CRT implantation techniques are different with a thoracotomy or hybrid approach prevailing. Efficacy of CRT in CHD seems to depend on the anatomy of the systemic ventricle with best results achieved in systemic left ventricular patients upgraded to CRT from conventional pacing. Indications for CRT in patients with CHD were recently summarized in the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS) Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease and are presented in the text.

  18. Carcinoid Syndrome and Carcinoid Heart Disease as Manifestations of Non-Metastatic Ovarian Neuroendocrine Tumour

    Directory of Open Access Journals (Sweden)

    Joana Simões-Pereira

    2017-05-01

    Full Text Available The carcinoid syndrome is rare but it is associated with carcinoid heart disease in more than a half of the cases. Carcinoid heart disease is typically characterised by morphological and functional modifications of right-sided valves. Its aetiology is probable multifactorial but serotonin appears to play a key role in the development of this valvular disease. Unlike gastrointestinal neuroendocrine tumours, ovarian neuroendocrine tumours can present with carcinoid syndrome and carcinoid heart disease in the absence of liver metastases; such ovarian neuroendocrine tumours are a unique clinical entity. The additional burden of cardiac impairment in these patients represents a significant reduction in survival. Early recognition and surgical valve replacement before advanced heart failure is established may improve the clinical outcome. We report the case of a woman with an ovarian neuroendocrine tumour and highly symptomatic carcinoid heart disease who was submitted to tumour resection followed by valvuloplasty. She demonstrated an outstanding clinical improvement and has remained free of tumour and symptomatology.

  19. Cutaneous manifestations of mixed connective tissue disease: Study from a tertiary care hospital in Eastern India

    Directory of Open Access Journals (Sweden)

    Sumit Sen

    2014-01-01

    Full Text Available Context: Mixed connective tissue disorder is an uncommon disease. Some scientists are reluctant to recognize it as a separate entity. Some others have defined this ailment. Cutaneous features of this condition are unique. Researchers from India have described these features to relate to those described in the studies from other parts of the globe. Aims: This study aims to delineate the skin manifestations of clearly defined mixed connective tissue disease (MCTD patients, to compare them with those established as overlap syndrome, and to relate them with studies from other parts of the globe. Settings and Design: Successive patients who fulfilled the specific criteria for MCTD presenting in the skin outpatient department of a tertiary care hospital in eastern India were clinically examined from 2009 for 3 years. Materials and Methods: The number of participants was 23 and the dermatological features of these were compared with 22 patients with overlap syndrome. The antibody to uridine-rich U1 ribonucleoprotein was measured for all patients. Statistical Analysis Used: SPSS (Version 17 and MedCalc (Version 11.6. Results: The Male: Female ratio among the MCTD patients was 1:6.67 and that of the overlap syndrome was 1:10. Twenty patients of the MCTD group presented with synovitis as against only seven in the overlap group. Raynaud′s phenomenon was present in some of the subjects. Puffy fingers were rare in our study. Facial numbness was reported by four of those suffering from MCTD. Antinuclear antibody (ANA was essentially of a speckled pattern in this disease Conclusions: Cutaneous indicators of MCTD are distinct from overlap syndrome. Knowledge of these manifestations prevalent in a region may lead to early diagnosis of the disease.

  20. A REVIEW ON DISEASES MANIFESTATION BY OCULAR DISEASES USING COMPUTER AIDED DIAGNOSIS (CAD

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    Ridza Azri Ramlee

    2015-08-01

    Full Text Available The use of eye for diagnosis for detecting the disease has been used long time ago. However, for conventional medical practitioners this procedure are used to detect diseases that cause vision problems. This method is widely used by practitioners of alternative medicine that uses the eyes to detect the presence of disease, such as iridology practitioners. In this paper we study the method adopted by the researchers based on conventional and alternative medical practitioners to detect the presence of disease using a computer-aided diagnosis (CAD or automatically

  1. Frosted branch angiitis, neuroretinitis as initial ocular manifestation in Behçet disease

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    Abdullah Al-Mujaini

    2011-01-01

    Full Text Available Behçet disease is an idiopathic, multisystem disorder characterized by recurrent episodes of orogenital ulceration and vasculitis of the veins and arteries of all calibers. Ocular involvement may affect the conjunctiva, sclera, uveal tract, vitreous, blood vessels, and retina. Many theories have pointed toward an autoimmune response behind its pathogenesis, which may be triggered by exposure to an infectious agent. Frosted branch angiitis is characterized by vascular inflammation, sheathing, retinal edema, and retinal hemorrhages. The disease may be idiopathic in a majority of the cases or may be associated with ocular and systemic pathology. Association between Behηet disease, Frosted branch angiitis, and neuroretinitis is not reported in literature. This uncommon combination reflects the varied systemic and ocular manifestations in Behηet disease, especially in patients who are not diagnosed and treated in time. We hereby report a case of bilateral frosted branch angiitis and neuroretinitis in a young male from Middle-east, suffering from Behçet disease.

  2. Managing manifest diseases, but not health risks, saved PepsiCo money over seven years.

    Science.gov (United States)

    Caloyeras, John P; Liu, Hangsheng; Exum, Ellen; Broderick, Megan; Mattke, Soeren

    2014-01-01

    Workplace wellness programs are increasingly popular. Employers expect them to improve employee health and well-being, lower medical costs, increase productivity, and reduce absenteeism. To test whether such expectations are warranted, we evaluated the cost impact of the lifestyle and disease management components of PepsiCo's wellness program, Healthy Living. We found that seven years of continuous participation in one or both components was associated with an average reduction of $30 in health care cost per member per month. When we looked at each component individually, we found that the disease management component was associated with lower costs and that the lifestyle management component was not. We estimate disease management to reduce health care costs by $136 per member per month, driven by a 29 percent reduction in hospital admissions. Workplace wellness programs may reduce health risks, delay or avoid the onset of chronic diseases, and lower health care costs for employees with manifest chronic disease. But employers and policy makers should not take for granted that the lifestyle management component of such programs can reduce health care costs or even lead to net savings.

  3. Preliminary Study of Cardiovascular Manifestations and Cardiac Severity Scale in 58 Patients with Systemic Sclerosis in Iran Using the Medsger Scale

    Directory of Open Access Journals (Sweden)

    Simin Almasi

    2010-02-01

    Full Text Available Background: Cardiac involvement in systemic sclerosis (SSc is more prevalent than previously thought. In this study, the frequency and severity of cardiovascular involvement were assessed in SSc patients referred to Firouzgar Hospital.Methods: Fifty-eight patients with SSc, selected from the data bank of SSc patients, were reviewed for the frequency and severity of 8 organ involvements in this case series.The preliminary severity scale, published by international SSc study groups, was employed for the determination of theseverity grade in the cardiovascular system. In the cardiac scoring scale, grade 0 represents normal heart (no cardiac involvement, grade 1 denotes mild involvement [electrocardiography (ECG conduction defect and a left ventricular ejection fraction (LVEF of 45-49%], grade 2 signifies moderate involvement (arrhythmia, LVEF = 40-44%, grade 3 indicates severe involvement (LVEF <40%], and grade 4 stands for end stage (congestive heart failure and arrhythmia requiring treatment.Results: In this study, 24 (41.4% patients were in the diffuse cutaneous (dcSSc subset. The female to male ratio was 10.5:1,and the mean duration from symptom onset to diagnosis was 7.35 years for the dcSSc subset and 8.41 years for the limited cutaneous (lcSSc subset of disease, there being no significant difference. Cardiac involvement in this series was seen in 13 (22.4% cases; and there was no significant difference in terms of frequency and severity between the two disease subgroups(p value = 0.96 and p value = 0.46 respectively.Conclusion: Our findings showed that the cardiac involvement in this series was infrequent and that there was no significant difference in the severity of cardiovascular involvement between the two subtypes of SSc in the late stage of the disease.

  4. T-wave inversions on ECG as primary manifestation of Hashimoto's disease.

    Science.gov (United States)

    Araque, Katherine A; Smith, Michael J; Walsh, Brooks M

    2016-04-07

    A middle-aged Hispanic woman presented to the emergency department (ED) reporting of acute new onset pressure-like chest pain developed at rest. It was radiated to the right arm and associated with malaise. Initial ECG demonstrated T-wave inversions (TWIs) in all anterior and lateral leads. Electrolytes, serial cardiac troponin and D-dimer were all normal. Comprehensive transthoracic echocardiogram and nuclear stress test did not reveal a cardiac cause of her symptoms.Serum thyroid-stimulating hormone was markedly elevated (207 mIU/L) and free thyroxine was low (FT4 0.07 ng/dL), consistent with severe primary hypothyroidism. Thyroperoxidase (TPO) antibodies were positive. Therapy with levothyroxine was started. No other cause of the TWIs was identified. A repeat ECG obtained 8 weeks later showed partial resolution of the TWIs. Our observations indicate that Hashimoto's disease is the most likely primary cause of this patient's extensive and profound TWI, which improved after thyroid replacement therapy. 2016 BMJ Publishing Group Ltd.

  5. In vivo models of cardiac diseases: application to drug development and screening.

    Science.gov (United States)

    Rokutan, Hirofumi; Anker, Stefan D; Springer, Jochen

    2010-01-01

    Cardiac disease is the top cause of human mortality in the Western world. Current drug therapy for cardiac disease has been established via experimental studies using a variety of in vivo animal models. The purpose of this review is to discuss the features (advantages and limitations) of the mainly used in vivo models of cardiac disease and provide the reader with an overview of how they can be utilized in the development and screening of cardiac drugs. A search for articles focusing on and including in vivo models for the main areas of cardiac diseases was performed on PubMed. We also searched the reference lists of identified articles for further original articles. Large and small animal models including genetically modified ones have made accomplishments in the process of cardiac drug development with different clinical relevance. However, there is still a clear need for lessening the gap between human and experimental models by improving in vivo models.

  6. Disease outcome for children who present with oral manifestations of Crohn's disease.

    LENUS (Irish Health Repository)

    Hussey, S

    2011-06-01

    To describe the outcome for children with oral Crohn\\'s disease (OCD) at diagnosis, and to determine if there was a difference in the Paediatric Crohn\\'s Disease Activity Index (PCDAI) scores between those with and those without oral lesions at follow-up.

  7. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.

    Science.gov (United States)

    Rombach, S M; Dekker, N; Bouwman, M G; Linthorst, G E; Zwinderman, A H; Wijburg, F A; Kuiper, S; Vd Bergh Weerman, M A; Groener, J E M; Poorthuis, B J; Hollak, C E M; Aerts, J M F G

    2010-09-01

    Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated. All male and adult female patients with classical Fabry disease could be discerned by an elevated plasma lysoGb3. In young pre-symptomatic Fabry heterozygotes, lysoGb3 levels can be normal. Individuals carrying the R112H and P60L mutations, without classical Fabry symptoms, showed no elevated plasma lysoGb3. Multiple regression analysis showed that there is no correlation of plasma lysoGb3 concentration with total disease severity score in Fabry males. However, plasma lysoGb3 concentration did correlate with white matter lesions (odds ratio: 6.1 per 100 nM lysoGb3 increase (95% CI: 1.4-25.9, p=0.015). In females, plasma lysoGb3 concentration correlated with overall disease severity. Furthermore, plasma lysoGb3 level was related to left ventricular mass (19.5+/-5.5 g increase per 10 nM lysoGb3 increase; p=0.001). In addition, it was assessed whether lifetime exposure to lysoGb3 correlates with disease manifestations. Male Fabry patients with a high lysoGb3 exposure (>10,000 U), were moderately or severely affected, only one mildly. Female patients with a low exposure (1000 U showed disease complications. Plasma lysoGb3 is useful for the diagnosis of Fabry disease. LysoGb3 is an independent risk factor for development of cerebrovascular white matter lesions in male patients and left ventricular hypertrophy in females. Disease severity correlates with exposure to plasma lysoGb3.

  8. Striatal hypometabolism in premanifest and manifest Huntington's disease patients

    Energy Technology Data Exchange (ETDEWEB)

    Lopez-Mora, Diego Alfonso; Camacho, Valle; Fernandez, Alejandro; Montes, Alberto; Carrio, Ignasi [Autonomous University of Barcelona, Nuclear Medicine Department, Hospital Sant Pau, Barcelona (Spain); Perez-Perez, Jesus; Martinez-Horta, Sauel; Kulisevsky, Jaime [Autonomous University of Barcelona, Movement Disorders Unit, Neurology Department, Hospital Sant Pau, Barcelona (Spain); Sampedro, Frederic [University of Barcelona, Barcelona (Spain); Lozano-Martinez, Gloria Andrea; Gomez-Anson, Beatriz [Autonomous University of Barcelona, Neuroradiology, Radiology Department, Hospital Sant Pau, Barcelona (Spain)

    2016-11-15

    To assess metabolic changes in cerebral {sup 18}F-FDG PET/CT in premanifest and manifest Huntington's disease (HD) subjects compared to a control group and to correlate {sup 18}F-FDG uptake patterns with different disease stages. Thirty-three gene-expanded carriers (Eight males; mean age: 43 y/o; CAG > 39) were prospectively included. Based on the Unified Huntington's Disease Rating Scale Total Motor Score and the Total Functional Capacity, subjects were classified as premanifest (preHD = 15) and manifest (mHD = 18). Estimated time disease-onset was calculated using the Langbehn formula, which allowed classifying preHD as far-to (preHD-A) and close-to (PreHD-B) disease-onset. Eighteen properly matched participants were included as a control group (CG). All subjects underwent brain {sup 18}F-FDG PET/CT and MRI. {sup 18}F-FDG PET/CT were initially assessed by two nuclear medicine physicians identifying qualitative metabolic changes in the striatum. Quantitative analysis was performed using SPM8 with gray matter atrophy correction using the BPM toolbox. Visual analysis showed a marked striatal hypometabolism in mHD. A normal striatal distribution of {sup 18}F-FDG uptake was observed for most of the preHD subjects. Quantitative analysis showed a significant striatal hypometabolism in mHD subjects compared to CG (p < 0.001 uncorrected, k = 50 voxels). In both preHD groups we observed a significant striatal hypometabolism with respect to CG (p < 0.001 uncorrected, k = 50 voxels). In mHD subjects we observed a significant striatal hypometabolism with respect to both preHD groups (p < 0.001 uncorrected, k = 50 voxels). {sup 18}F-FDG PET/CT might be a helpful tool to identify patterns of glucose metabolism in the striatum across the stages of HD and might be relevant in assessing the clinical status of gene-expanded HD carriers due to the fact that dysfunctional glucose metabolism begins at early preHD stages of the disease. {sup 18}F-FDG PET/CT appears as a

  9. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus.

    Directory of Open Access Journals (Sweden)

    Kimberly E Taylor

    2008-05-01

    Full Text Available Systemic lupus erythematosus (SLE is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region genotyped in 4 independent SLE case series (total n = 1398 and 2560 healthy controls, along with clinical data for the cases. Using conditional testing, we confirmed the most significant STAT4 haplotype for SLE risk. We then studied a SNP marking this haplotype for association with specific SLE subphenotypes, including autoantibody production, nephritis, arthritis, mucocutaneous manifestations, and age at diagnosis. To prevent possible type-I errors from population stratification, we reanalyzed the data using a subset of subjects determined to be most homogeneous based on principal components analysis of genome-wide data. We confirmed that four SNPs in very high LD (r(2 = 0.94 to 0.99 were most strongly associated with SLE, and there was no compelling evidence for additional SLE risk loci in the STAT4 region. SNP rs7574865 marking this haplotype had a minor allele frequency (MAF = 31.1% in SLE cases compared with 22.5% in controls (OR = 1.56, p = 10(-16. This SNP was more strongly associated with SLE characterized by double-stranded DNA autoantibodies (MAF = 35.1%, OR = 1.86, p<10(-19, nephritis (MAF = 34.3%, OR = 1.80, p<10(-11, and age at diagnosis<30 years (MAF = 33.8%, OR = 1.77, p<10(-13. An association with severe nephritis was even more striking (MAF = 39.2%, OR = 2.35, p<10(-4 in the homogeneous subset of subjects. In contrast, STAT4 was less strongly associated with oral ulcers, a manifestation associated with milder disease. We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease.

  10. Oral manifestations in Urbach--Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae).

    Science.gov (United States)

    Hofer, P A; Bergenholtz, A

    1975-01-01

    The oral manifestations in 27 patients with Urbach--Wiethe disease (UWD) discovered in Northern Sweden are described. The oral regions most frequently affected are the lips, the back of the tongue, the frenulum of the tongue, the palate and the back wall of the pharynx. The general impression is that older patients usually have more marked manifestations than younger, indicating that the oral lesions may become more severe with increasing age. Histopathologically, the disorder is essentially a microangiopathy in which the walls of small blood vessels are thick and PAS-positive, indicating the presence of glycoproteins. In clinically affected regions there are usually PAS-positive extravascular deposits. In material used of lipid histochemical studies, sudanophil droplets were found in the vessel walls. By staining with osmium tetroxide the osmium is--contrary to previous assumptions--in some way bound to the droplets, but for unknown reasons is not reduced to a coloured product. The binding of osmium was demonstrated by the OTAN (osmium textroxide alpha-naphthylamine) method. The exact significance of this finding awaits further studies. The implications of dental anomalies occurring in UWD are discussed.

  11. [Subclinical and manifested hypothyroidism as a consequence of thyroid autoimmune disease].

    Science.gov (United States)

    Milosević, Dragoslav P; Djurica, Snezana; Davidović, Mladen; Stević, Radmila; Rajić, Miodrag; Marković, Natasa

    2005-10-01

    Chronic thyroiditis (Hashimoto's disease) is a slowly developing persistent inflamation of the thyroid gland, which frequently leads to hypothyroidism. Some of the up-to-date knowledge about hypothyroidism, both subclinical and manifested, caused by autoimmune disease, was presented. Autoimmune thyroid gland disease can occur at any age, but predominantly affects women after periods of high emotional and physical stress or accidents, as well as during periods of hormonal changes. It can also develop in families, and having an autoimmune disease slightly increases the risk of developing another. This paper showed an increasing incidence of subclinical hypothyroidism (4.17%) in elderly, and, at the same time, the incidence of primary hypothyroidism accounting for 1%. It is very usefull to estimate the stimulated thyrotropin (TSH) response, as well as the value of fast, short time thyroid gland reserves, analyzed by T3 and T4 serum level at 60th minute after TRH stimulation. Treatment of choice for HT (hypothyroidism of any cause) is thyroid hormone replacement. Drug of choice is orally administered levothyroxine sodium, usually for life-time. The standard dose is 1.6-1.8 mcg/kg body weight per day, but is in most cases patient dependent. Elderly patients usually require smaller replacement dose of levothyroxine, sometimes less than 1 mcg/kg body weight per day with coronary dilatator at the same time.

  12. Paediatric cardiac anaesthesia in sickle cell disease: a case series

    African Journals Online (AJOL)

    This case series details experience of four paediatric patients with SCD who underwent corrective cardiac surgery at Red ..... Increased LV stroke volume, increased cardiac output & heart rate ... Hydroxyurea treatment may cause bone marrow.

  13. Reviving the protein quality control system : Therapeutic target for cardiac disease in the elderly

    NARCIS (Netherlands)

    Meijering, Roelien A M; Henning, Robert H; Brundel, Bianca J J M

    2015-01-01

    It has been firmly established that ageing constitutes a principal risk factor for cardiac disease. Currently, the underlying mechanisms of ageing that contribute to the initiation or acceleration of cardiac disease are essentially unresolved. Prevailing theories of ageing center on the loss of cell

  14. Celiac disease manifesting as isolated cobalamin deficiency megaloblastic anemia: Case series and review

    Directory of Open Access Journals (Sweden)

    Vikram Sakaleshpur Kumar

    2014-01-01

    Full Text Available Celiac disease (CD is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. It has been identified as one of the most common lifelong disorders on a worldwide basis. Enteropathy in CD is thought to be the final consequence of an abnormal immune reaction, showing features of both an innate and adaptive response to gluten prolamins. The clinical spectrum is wide, including cases with either typical intestinal or atypical extra intestinal features, or silent forms. Anemia has frequently been reported as the only manifestation or the most frequent extra-intestinal symptom of CD. The only available treatment consists in dietary exclusion of grains containing gluten.

  15. Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease.

    Science.gov (United States)

    Verma, Rajesh; Bhandari, Aveg; Tiwari, Navin; Chaudhari, Tejendra S

    2013-08-20

    Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.

  16. Adult Onset Still’s Disease: A Case Report with a Rare Clinical Manifestation and Pathophysiological Correlations

    Directory of Open Access Journals (Sweden)

    Katerina M. Antoniou

    2013-01-01

    Full Text Available Adult-onset Still’s disease is an inflammatory multisystemic disease of unknown etiology. Pleuritis is the most common pulmonary manifestation and pleural effusions are usually exudates with a predominance of neutrophils. We report a case of an eosinophilic pleural effusion as a novel and hitherto unrecognized manifestation of active adult-onset Still’s disease. We also observed a marked NLRP3 inflammasome activation with increased production of IL-1β which coincided with the development and resolved upon remission of the pleural effusion suggesting a possible novel pathogenetic pathway for the development of pleural effusions in the context of the auto-inflammatory disorders.

  17. Spleen volume and clinical disease manifestations of severe Plasmodium falciparum malaria in African children.

    Science.gov (United States)

    Kotlyar, Simon; Nteziyaremye, Julius; Olupot-Olupot, Peter; Akech, Samuel O; Moore, Christopher L; Maitland, Kathryn

    2014-05-01

    Plasmodium falciparum malaria is common in African children. Severe disease manifestations include severe malarial anemia (SMA) and cerebral malaria (CM). In vitro studies suggest that splenic sequestration is associated with SMA and protective against CM. We sought to characterize the relationship between ultrasonographically derived spleen volume (SV), clinical manifestations and outcome. We conducted a prospective observational study of severe malaria and SV in children aged 3 months to 12 years in Eastern Uganda. An SV normogram was generated from 186 healthy controls and adjusted for total body surface area (TBSA). Children with severe P. falciparum malaria were classified according to disease phenotype, and SV z-scores were compared for cases and controls to assess the degree of spleen enlargement. One hundred and four children with severe malaria, median age 19.2 months, were enrolled; 54 were classified as having SMA and 15 with CM. Mortality was 27% in the CM group vs 1.9% in the SMA group. TBSA-adjusted SV z-scores were lower in children with CM compared to SMA (1.98 [95% CI 1.38-2.57] vs 2.73 [95% CI 2.41-3.04]; p=0.028). Mean SV z-scores were lower in children who died (1.20 [95% CI 0.14-2.25]) compared to survivors (2.58 [95% CI 2.35-2.81]); p=0.004. SV is lower in CM compared to SMA. Severe malaria with no increase in SV z-score may be associated with mortality.

  18. Cardiac Sarcoidosis.

    Science.gov (United States)

    Birnie, David; Ha, Andrew C T; Gula, Lorne J; Chakrabarti, Santabhanu; Beanlands, Rob S B; Nery, Pablo

    2015-12-01

    Studies suggest clinically manifest cardiac involvement occurs in 5% of patients with pulmonary/systemic sarcoidosis. The principal manifestations of cardiac sarcoidosis (CS) are conduction abnormalities, ventricular arrhythmias, and heart failure. Data indicate that an 20% to 25% of patients with pulmonary/systemic sarcoidosis have asymptomatic (clinically silent) cardiac involvement. An international guideline for the diagnosis and management of CS recommends that patients be screened for cardiac involvement. Most studies suggest a benign prognosis for patients with clinically silent CS. Immunosuppression therapy is advocated for clinically manifest CS. Device therapy, with implantable cardioverter defibrillators, is recommended for some patients.

  19. High Variability of Fabry Disease Manifestations in an Extended Italian Family

    Directory of Open Access Journals (Sweden)

    Giuseppe Cammarata

    2015-01-01

    Full Text Available Fabry disease (FD is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL. The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease.

  20. Manifestation of HIV infection and skin disease%HIV感染与皮肤病表现

    Institute of Scientific and Technical Information of China (English)

    唐忠芬; 许必芳

    2014-01-01

    近年来我国皮肤科患者HIV感染率明显上升,且感染后出现皮肤病症状相当普遍。笔者通过近年来在皮肤科门诊中诊断的HIV患者的表现和国内外文献,探讨HIV感染与皮肤病的表现,建议对可疑的皮肤病和高危人群尽可能作HIV抗体初筛试验,从而有效预防艾滋病传播。%In recent years, the infection rate of HIV in dermatology department of our country significantly increases, and symptoms of skin diseases caused by infection are quite common. According to the performance of HIV patients of dermatology clinics in recent years and domestic and foreign literature, the author explores the manifestation of HIV infection and skin disease, suggesting suspicious skin disease and high-risk groups for HIV antibody screening test, so as to effectively prevent the spread of AIDS.

  1. Manifestaciones oculares de las enfermedades sistémicas Ocular manifestations of systemic diseases

    Directory of Open Access Journals (Sweden)

    J. Andonegui

    2008-01-01

    Full Text Available Existe un gran número de enfermedades sistémicas que pueden presentar en algún momento de su evolución manifestaciones oculares. Estas alteraciones pueden provocar sintomatología por sí mismas, pueden ayudar a diagnosticar la enfermedad sistémica que las originó o pueden servir para monitorizar el curso evolutivo de la misma. Se destacan las principales características de una serie de enfermedades sistémicas asociadas a patología ocular que serán estudiadas en detalle a lo largo de esta monografía.A great number of systemic diseases can exhibit ocular manifestations during their evolution. These ocular alterations may cause symptoms by themselves, but can also be useful in diagnosing or monitoring the evolution of the systemic condition. The main characteristics of several systemic diseases exhibiting some kind of ocular sign are highlighted. These diseases will be described in detail in this issue.

  2. Langerhans Cells Histiocytosis: Features of Clinical and Laboratory Manifestations and Course of the Disease

    Directory of Open Access Journals (Sweden)

    O.I. Dorosh

    2014-09-01

    Full Text Available The aim of the research. To specify the features of clinical symptoms, course of the disease and the efficacy of treatment for Langerhans cells histiocytosis (LCH in children. Methods of the Study. Clinacal, haemotological, biochemical, histological, immunohistochemical, radiological ones. Results of the Study. An analysis of 25 cases of LCH in children was presented. Monosystem LCH most often affects the skeletal system. Multisystem LCH is characterized by diversity of clinical manifestations, more severe course and high risk of death. One third of patients with multisystem LCH are infants. In children with monosystem LCH we observed complete clinical response to first-line therapy. At the same time, complete response to polychemotherapy is observed only in 30 % of children with multisystem LCH. Prognosis of the disease depends on the initial affection of risk organs (bone marrow, liver, lungs, spleen, their dysfunction and the child’s age at the time of diagnosis. Process reactivation in children with multisystem LCH occurs in the first 12 months from the onset of the disease.

  3. Two cases of possible neuro-Sweet disease with meningoencephalitis as the initial manifestation

    Directory of Open Access Journals (Sweden)

    Go Makimoto

    2012-02-01

    Full Text Available We report 2 cases that were considered to be neuro-Sweet disease. They initially manifested with meningoencephalitis and no skin lesions, and rapidly improved with corticosteroid therapy. In both cases, patients complained of meningitic symptoms such as fever and headache, and HLA-B54 and -Cw1 turned out to be positive over the clinical course. Cerebrospinal fluid analysis showed increased levels of lymphocytes and protein. In case #1, fluid-attenuated inversion recovery (FLAIR, magnetic resonance imaging (MRI and diffusion-weighted images (DWI showed high-intensity signals in the right dorsal medulla oblongata, bilateral dorsal midbrain, and left thalamus. In case #2, FLAIR and DWI showed high-intensity signals in the bilateral cerebellar cortex and left caudate nucleus. Symptoms and MRI images were markedly improved in both cases after corticosteroid pulse therapy. According to published diagnostic criteria, these 2 cases were considered possible neuro-Sweet disease. These cases suggest that the combination of meningoencephalitis and HLA specificity is important to consider the possibility of neuro-Sweet disease, even without skin lesions.

  4. Two cases of possible neuro-Sweet disease with meningoencephalitis as the initial manifestation

    Science.gov (United States)

    Makimoto, Go; Manabe, Yasuhiro; Yamakawa, Chizuru; Fujii, Daiki; Ikeda-Sakai, Yasuko; Narai, Hisashi; Omori, Nobuhiko; Abe, Koji

    2012-01-01

    We report 2 cases that were considered to be neuro-Sweet disease. They initially manifested with meningoencephalitis and no skin lesions, and rapidly improved with corticosteroid therapy. In both cases, patients complained of meningitic symptoms such as fever and headache, and HLA-B54 and -Cw1 turned out to be positive over the clinical course. Cerebrospinal fluid analysis showed increased levels of lymphocytes and protein. In case #1, fluid-attenuated inversion recovery (FLAIR), magnetic resonance imaging (MRI) and diffusion-weighted images (DWI) showed high-intensity signals in the right dorsal medulla oblongata, bilateral dorsal midbrain, and left thalamus. In case #2, FLAIR and DWI showed high-intensity signals in the bilateral cerebellar cortex and left caudate nucleus. Symptoms and MRI images were markedly improved in both cases after corticosteroid pulse therapy. According to published diagnostic criteria, these 2 cases were considered possible neuro-Sweet disease. These cases suggest that the combination of meningoencephalitis and HLA specificity is important to consider the possibility of neuro-Sweet disease, even without skin lesions. PMID:22593809

  5. Mantle Cell Hyperplasia of Peripheral Lymph Nodes as Initial Manifestation of Sickle Cell Disease

    Science.gov (United States)

    Monabbati, Ahmad; Noori, Sadat; Safaei, Akbar; Ramzi, Mani; Eghbali, Seyedsajjad

    2016-01-01

    Sickle cell disease (SCD) is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules. To rule out possibility of a malignant process involving lymph nodes, an immunohistochemical panel was ordered which was in favor of benign mantle cell hyperplasia. Immunoglobulin gene rearrangement study showed no clonal bands and confirmed benign nature of the process. Respecting mild abnormalities on Complete Blood Count, peripheral blood smear was reviewed revealing some typical sickle red blood cells as well as rare nucleated red blood cells. Solubility test for hemoglobin (HB) S was positive. Hemoglobin electrophoresis confirmed diagnosis of homozygous HbS disease. PMID:27872769

  6. Mantle Cell Hyperplasia of Peripheral Lymph Nodes as Initial Manifestation of Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Ahmad Monabbati

    2016-01-01

    Full Text Available Sickle cell disease (SCD is a well known hemoglobinopathy with usual manifestations including anemia, hyperbilirubinemia, and vasoocclusive complications. Despite presence of mild splenomegaly in early phase of the disease, lymphadenopathy is not an often finding of SCD. We introduce an undiagnosed case of SCD who presented in third decade of his life with multiple cervical lymphadenopathies and mild splenomegaly persistent for about five years. Histopathologic examination of the resected lymph nodes showed expansion of the mantle cell layers of secondary follicles as well as several monomorphic mantle cell nodules. To rule out possibility of a malignant process involving lymph nodes, an immunohistochemical panel was ordered which was in favor of benign mantle cell hyperplasia. Immunoglobulin gene rearrangement study showed no clonal bands and confirmed benign nature of the process. Respecting mild abnormalities on Complete Blood Count, peripheral blood smear was reviewed revealing some typical sickle red blood cells as well as rare nucleated red blood cells. Solubility test for hemoglobin (HB S was positive. Hemoglobin electrophoresis confirmed diagnosis of homozygous HbS disease.

  7. Cardiac Dysfunction in the BACHD Mouse Model of Huntington's Disease.

    Directory of Open Access Journals (Sweden)

    Analyne M Schroeder

    Full Text Available While Huntington's disease (HD is classified as a neurological disorder, HD patients exhibit a high incidence of cardiovascular events leading to heart failure and death. In this study, we sought to better understand the cardiovascular phenotype of HD using the BACHD mouse model. The age-related decline in cardiovascular function was assessed by echocardiograms, electrocardiograms, histological and microarray analysis. We found that structural and functional differences between WT and BACHD hearts start at 3 months of age and continue throughout life. The aged BACHD mice develop cardiac fibrosis and ultimately apoptosis. The BACHD mice exhibited adaptive physiological changes to chronic isoproterenol treatment; however, the medication exacerbated fibrotic lesions in the heart. Gene expression analysis indicated a strong tilt toward apoptosis in the young mutant heart as well as changes in genes involved in cellular metabolism and proliferation. With age, the number of genes with altered expression increased with the large changes occurring in the cardiovascular disease, cellular metabolism, and cellular transport clusters. The BACHD model of HD exhibits a number of changes in cardiovascular function that start early in the disease progress and may provide an explanation for the higher cardiovascular risk in HD.

  8. Clinical utility and cost effectiveness of a personal ultrasound imager for cardiac evaluation during consultation rounds in patients with suspected cardiac disease

    NARCIS (Netherlands)

    E.C. Vourvouri (Eleni); L.Y. Koroleva; F.J. ten Cate (Folkert); D. Poldermans (Don); A.F.L. Schinkel (Arend); W.B. Vletter (Wim); J.R.T.C. Roelandt (Jos); R.T. van Domburg (Ron)

    2003-01-01

    textabstractOBJECTIVE: To assess the clinical utility and cost effectiveness of a personal ultrasound imager (PUI) during consultation rounds for cardiac evaluation of patients with suspected cardiac disease. METHODS: 107 unselected patients from non-cardiac departments (55% men) w

  9. Factor V leiden mutation in Behcet’s disease and the relationship with clinical manifestations

    Directory of Open Access Journals (Sweden)

    Mowla K

    2010-05-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Behcet's disease (BD is a multisystemic inflammatory disease with unknown origin characterized by recurrent oral aphtous ulcers, genital, ocular and skin lesions. A single point mutation 1691G to A in the factor V gene increases the risk of venous thrombosis. This study designed to determine factor V Leiden mutation in Behcet's disease, and to find out it's relationship with the clinical manifestations in Khuzestan province, Iran. "n"nMethods: One hundred patients with Behcet's Disease (44 males and 56 females based on international diagnostic criteria and 70 healthy subjects were included in the study. Patients and controls were tested for the presence of factor V Leiden mutation using polymerase chain reaction method."n"nResults: The prevalence of factor V Leiden mutation was significantly higher in BD (10 out of 100, 10% compared with healthy control subjects (1 out of 70, 1.4%, (p=0.025. Vascular lesions in this study were deep vein thrombosis (DVT (7%, subcutaneous thrombophlebitis (5%, stroke (1% and retinal vasculitis (39%. It was found that there was no association between venous thrombosis and the factor V Leiden mutation in Khuzestanian patients. Also, no association between

  10. Manifestaciones corneales en las enfermedades sistémicas Corneal manifestations in systemic diseases

    Directory of Open Access Journals (Sweden)

    J. Zarranz-Ventura

    2008-01-01

    Full Text Available Un gran número de enfermedades sistémicas presentan manifestaciones corneales dentro de su espectro de enfermedad. El estudio detallado de todos los cuadros que asocian patología corneal resulta inabarcable, por ello se presentan las enfermedades más prevalentes o características. Este estudio contempla las enfermedades pulmonares y conectivopatías (colagenosis, enfermedades reumatológicas y enfermedades inflamatorias idiopáticas, las enfermedades dermatológicas, cardiovasculares, hematológicas y la patología digestiva y hepatopancreática. Se contemplan también, por ocasionar alteraciones corneales, las enfermedades endocrinas y metabólicas con algunas situaciones de malnutrición y estados carenciales, las infecciones sistémicas y las enfermedades renales. Otro área que produce afectación corneal es la patología otorrinolaringológica y las enfermedades genéticas. Se repasa brevemente la toxicidad y las alteraciones corneales provocadas por fármacos.Systemic diseases affecting the cornea have a wide range of manifestations. The detailed study of all pathologies that cause corneal alteration is unapproachable, so we have centered our interest in the most prevalent or characteristic of them. In this paper we have divided these pathologies in sections to facilitate their study. Pulmonar and conective tissue (like colagen, rheumatologic and idiopathic inflamatory diseases, dermatologic, cardiovascular, hematologic, digestive and hepatopancreatic diseases with corneal alteration are described. Endocrine and metabolic diseases, malnutrition and carential states are also studied, as well as some otorhinolaryngologic and genetic diseases that affect the cornea. Finally, a brief report of ocular toxicity induced by drugs is referred.

  11. Potential of cardiac stem/progenitor cells and induced pluripotent stem cells for cardiac repair in ischaemic heart disease.

    Science.gov (United States)

    Wang, Wei Eric; Chen, Xiongwen; Houser, Steven R; Zeng, Chunyu

    2013-10-01

    Stem cell therapy has emerged as a promising strategy for cardiac and vascular repair. The ultimate goal is to rebuild functional myocardium by transplanting exogenous stem cells or by activating native stem cells to induce endogenous repair. CS/PCs (cardiac stem/progenitor cells) are one type of adult stem cell with the potential to differentiate into cardiac lineages (cardiomyocytes, smooth muscle cells and endothelial cells). iPSCs (induced pluripotent stem cells) also have the capacity to differentiate into necessary cells to rebuild injured cardiac tissue. Both types of stem cells have brought promise for cardiac repair. The present review summarizes recent advances in cardiac cell therapy based on these two cell sources and discusses the advantages and limitations of each candidate. We conclude that, although both types of stem cells can be considered for autologous transplantation with promising outcomes in animal models, CS/PCs have advanced more in their clinical application because iPSCs and their derivatives possess inherent obstacles for clinical use. Further studies are needed to move cell therapy forward for the treatment of heart disease.

  12. Present Researching Approaches and Future Prospects for Treatment of Cardiac Diseases-Integrative Medicine

    Institute of Scientific and Technical Information of China (English)

    Yan Feng; Hao Xu; Yi-Xin Wang; Li-Ping Ma; Da-Zhuo Shi

    2015-01-01

    The pathogenesis of cardiac diseases is very complex and involved in many gene transcription and protein expression. How to effectively treat the diseases has become the hotspot of modern medicine. Accumulating evidences over the past decades on integrative medicine have shown us hopeful future prospects. With the development of modern biomedicine, such as sketch mapping genomic sequence, functional genomics, proteomics and pharmacogenetics, more advanced techniques could be applied in elucidating the possibly complicated biological networks, or complex pathological and physiological mechanisms underlying cardiac diseases, by which integrative medicine will also bring out some new and more effective strategies in the treatment of cardiac diseases.

  13. Fetal extracardiac anomalies associated with congenital cardiac diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Bum Ha; Cho, Jung Yeon; Lee, Young Ho; Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2004-06-15

    To evaluate the incidence of associated extracardiac anomalies in fetuses with congenital heart defects on fetal echocardiography, and to estimate the incidence of chromosomal abnormalities according to the extracardiac anomalies. From Jan. 1999 to Dec. 2001, 101 fetuses with prenatally diagnosed extracardiac anomalies and congenital cardiac diseases were selected for study. The mean gestational age at the time of the ultrasound exam was about 25 weeks. Associated extracardiac anomalies were classified into CNS, face and neck, thorax, abdomen, genitourinary system, musculoskeletal, other and multi-systemic anomalies groups. Chromosomal studies including chorionic villi sampling, amniocentesis, cordocentesis, and postnatal exam were correlated. Musculoskeletal anomalies were the most commonly associated extracardiac anomalies (n=28, 27.7%). Abdominal anomaly (n=26, 25.7%), central nervous system anomaly (n=25, 24.8%), genitourinary anomaly(n=12, 11.9%), thoracic anomaly (n=4, 4%), face and neck anomaly (n=3, 3%) were found. Twenty eight fetuses showed other anomalies (n=28, 27.7%). Multi-systemic anomalies were also common (n=20, 19.8%). Fetal anomalies involving two systems were noted in 15 fetuses, and anomalies of more than three systems were not uncommon (5 fetuses). Chromosomal study of 38 fetuses revealed 19 fetuses with abnormal karyotypes (50%). For 19 fetuses with abnormal karyotypes, central nervous system anomalies and musculoskeletal anomalies were the most frequently associated with extracardiac abnormalities (n=9). Multi-systemic anomalies were associated in 9 of the 19 fetuses. In fetuses with cardiac defects, the musculoskeletal, abdomen and CNS anomalies were commonly associated with extracardiac anomalies. Various extracardiac anomalies such as, head and neck anomalies, CNS anomalies, musculoskeletal anomalies, and multi-organ anomalies were highly correlated with chromosomal abnormalities, and so this relationship requires chromosomal study.

  14. Neurological manifestations of Behçet's disease: Case report and literature review.

    Science.gov (United States)

    López Bravo, Alba; Parra Soto, Carlos; Bellosta Diago, Elena; Cecilio Irazola, Álvaro; Santos-Lasaosa, Sonia

    2017-05-22

    Neurological involvement in Behçet's disease is rare, especially at the onset. It can present in the form of parenchymal changes or as damage to the vascular structures in its nonparenchymal form. The coexistence of both kinds of manifestations in the same patient is exceptional. We report the case of a 32-year-old patient with a history of deep venous thrombosis, who was being treated for holocranial headache, apathy, and oral and genital ulcers. Brain magnetic resonance imaging showed hyperintense lesions in the basal ganglia and white matter, and the vascular study evidenced venous thrombosis of the left transverse sinus. After confirming the diagnosis of Behçet's disease with parenchymal and nonparenchymal cerebral involvement, immunosuppressive and corticosteroid therapy was started, resulting in the remission of the symptoms. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  15. Morbidity After Cardiac Surgery in Patients With Adult Congenital Heart Disease in Comparison With Acquired Disease.

    Science.gov (United States)

    Karangelis, Dimos; Mazine, Amine; Narsupalli, Sreekanth; Mendis, Shamarli; Veldtman, Gruschen; Nikolaidis, Nicolas

    2017-06-28

    Due to the advancements in congenital cardiac surgery and interventional cardiology in the last five decades, more than 85% of congenital heart patients now survive to adulthood. This retrospective study included 135 Adult Congenital Heart Disease (ACHD) patients, who had cardiac surgery at Southampton General Hospital over three consecutive years. We also included 42 patients with a structurally normal heart who had cardiac surgery for acquired cardiac conditions as a control group. Preoperative, intraoperative and postoperative data were analysed in both groups to identify risk factors for morbidity and mortality. In the ACHD group, in hospital mortality was 0.7%. In the control group no deaths were observed. Fifty-eight per cent of the ACHD patients had significantly higher perioperative morbidity with arrhythmias (26%), bleeding (3%), prolonged ventilation (11.3%) and renal replacement therapy 1.5%. In the non ACHD control group 32% (p=0.003) developed perioperative complications with arrhythmias (9.8%), bleeding (2.5%), prolonged ventilation (4.3%) and renal replacement therapy (2.5%). In ACHD patients total in-hospital stay was longer in patients with longer cardiopulmonary bypass (CPB) time (p=0.005), aortic cross clamp time (p=0.013) and higher preoperative alkaline phosphatase level (p=0.005). Early postoperative complications were higher in ACHD patients with longer cardiopulmonary bypass time (p=0.04) and presence of pulmonary artery hypertension (p=0.012). Even though the preoperative and operative characteristics are similar to both groups, the morbidity is more in ACHD group. Longer CBP time, aortic cross clamp time and presence of pulmonary hypertension are risk factors for higher morbidity in this group. Copyright © 2017 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  16. Children with heart disease: Risk stratification for non-cardiac surgery.

    Science.gov (United States)

    Saettele, Angela K; Christensen, Jacob L; Chilson, Kelly L; Murray, David J

    2016-12-01

    Children with congenital or acquired heart disease have an increased risk of anesthesia related morbidity and mortality. The child's anesthetic risk is related to the severity of their underlying cardiac disease, associated comorbidities, and surgical procedure. The goal of this project was to determine the ease of use of a preoperative risk stratification tool for assigning pediatric cardiac staff and to determine the relative frequency that children with low, moderate, and high risk cardiac disease present for non-cardiac surgery at a tertiary pediatric hospital. A risk-stratification tool was prospectively applied to children with congenital heart disease who presented for non-cardiac surgery. Perioperative. We identified a subset of 100 children with congenital heart disease out of 2200 children who required general anesthesia for surgical or radiological procedures over a 6 week period. A risk stratification tool was utilized to place the patient into low, moderate, or high risk categories to help predict anticipated anesthetic risk. Each grouping specified assignment of staff caring for the patient, clarified preoperative expectations for cardiac assessment, and determined if patient care could be performed at our freestanding ambulatory surgical center. Electronic perioperative records were reviewed to obtain demographic information, the underlying heart disease, prior cardiac surgery, associated conditions, anesthetic management, complications, and provider type. Approximately 4.5% of children presented with cardiac disease over a 6 week period. In 100 consecutive children with cardiac disease, 23 of the children were classified as low risk, 66 patients were classified as moderate risk, and 11 of the patients were classified as high risk. Pediatric cardiac anesthesiologists provided care to all high risk patients. There were no serious adverse events. We found this risk stratification method an effective method to differentiate children into low, moderate

  17. Correlation between extraintestinal manifestations and clinical parameters with the histologic activity index in patients with inflammatory bowel diseases

    Directory of Open Access Journals (Sweden)

    Štulić Miloš

    2013-01-01

    Full Text Available Bacground/Aim. Crohn's disease (CD and ulcerative colitis (UC are chronic, idiopathic, inflammatory diseases of the digestive tract. The aim of this study was to determine a possible correlation between the clinical parameters of the disease activity degree and the presence of extraintestinal manifestations with disease activity histopathological degree, in patients presented with CD and UC. Methods. This cross-sectional study included 134 patients (67 with CD and UC, respectively treated at the Clinic of Gastroenterology, Clinical Center of Serbia, Belgrade. After clinical, laboratory, endoscopic, histopathologic and radiologic diagnostics, the patients were divided into two groups according to their histopathological activity. The group I comprised 79 patients whose values of five-grade histopathological activity were less than 5 (45 with CD and 34 with UC, while the group II consisted of 55 patients with the values higher than 5 (22 with CD and 33 with UC. The CD activity index (CDAI and Truelove and Witts' scale of UC were used for clinical evaluation of the disease activity. Results. CD extraintestinal manifestations were present in 28.9% and 63.6% of the patients in the groups I and II, respectively (p 0.05. Conclusion. In the patients presented with CD, the extraintestinal manifestations with higher CDAI suggested a higher degree of histopathological activity. On the contrary, in the UC patients, Truelove and Witts' scale and extraintestinal manifestations were not valid predictors of the disease histopathological activity.

  18. Depressed cardiac autonomic modulation in patients with chronic kidney disease

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    Carlos Alberto de Oliveira

    2014-04-01

    Full Text Available Introduction: A dysfunctional autonomic nervous system (ANS has also been recognized as an important mechanism contributing to the poor outcome in CKD patients, with several studies reporting a reduction in heart rate variability (HRV. Objective: Evaluate the sympathovagal balance in patients with chronic kidney disease on conservative treatment. Methods: In a cross-sectional study, patients with CKD stages 3, 4 and 5 not yet on dialysis (CKD group and age-matched healthy subjects (CON group underwent continuous heart rate recording during two twenty-minute periods in the supine position (pre-inclined, followed by passive postural inclination at 70° (inclined period. Power spectral analysis of the heart rate variability was used to assess the normalized low frequency (LFnu, indicative of sympathetic activity, and the normalized high frequency (HFnu, indicative of parasympathetic activity. The LFnu/HFnu ratio represented sympathovagal balance. Results: After tilting, CKD patients had lower sympathetic activity, higher parasympathetic activity, and lower sympathovagal balance than patients in the CON group. Compared to patients in stage 3, patients in stage 5 had a lower LFnu/HFnu ratio, suggesting a more pronounced impairment of sympathovagal balance as the disease progresses. Conclusion: CKD patients not yet on dialysis have reduced HRV, indicating cardiac autonomic dysfunction early in the course of CKD.

  19. Chronic Kidney Disease is a New Target of Cardiac Rehabilitation

    Directory of Open Access Journals (Sweden)

    Masahiro Kohzuki

    2017-05-01

    Full Text Available Chronic heart failure is increasingly prevalent worldwide and is associated with significant morbidity and mortality. The Cochrane review demonstrated that cardiac rehabilitation (CR resulted in improvements in QOL and a reduction in long-term mortality. Chronic kidney disease (CKD is another worldwide public health problem. This review focuses on the importance and efficacy of rehabilitation for CKD patients as a new target of CR. Patients with CKD on hemodialysis (HD have a high mortality rate, with cardiovascular diseases, such as chronic heart failure. A new systematic review and meta-analysis of randomized controlled trials reported that exercise-based renal rehabilitation improved aerobic capacity, muscular functioning, cardiovascular function, walking capacity, and QOL in CKD patients with HD. Moreover, exercise training may have renal protective effects, not only in some animal models of pre-HD CKD, but also in pre-HD CKD patients. Exercise therapy could be an effective clinical strategy in improving renal function, lowering the need for renal replacement therapy, such as HD, and reducing renal transplant risk in pre-HD CKD patients. This led the Ministry of Health, Labor and Welfare of Japan to extend renal rehabilitation partial coverage to stage 4 pre-HD CKD patients for the first time in the world in 2016.

  20. Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event.

    Science.gov (United States)

    Kaikkonen, Kari S; Kortelainen, Marja-Leena; Linna, Eeva; Huikuri, Heikki V

    2006-10-03

    Observational studies have suggested that a parental history of sudden death increases one's risk of dying suddenly. This study tested the hypothesis that a family history of sudden cardiac death (SCD) is a risk factor for SCD caused by an acute coronary event. A retrospective case-control study included (1) consecutive victims of SCD (n=138) whose deaths were verified to be due to an acute coronary event without a history of prior myocardial infarction at medicolegal autopsy, (2) consecutive patients surviving an acute myocardial infarction (AMI; n=254), and (3) healthy control subjects (n=470). Family history of AMI and SCD among the first-degree relatives was ascertained in each study group. The incidence of SCD in the 1223 first-degree relatives of SCD victims was higher (5.2%) than that in the 2326 relatives of AMI survivors (3.3%; odds ration [OR] 1.6, 95% confidence interval [CI] 1.2 to 2.2, Phistory of SCD in 2 or more first-degree relatives was also higher (10.9%) among SCD victims than among AMI survivors (3.5%; OR 3.3, 95% CI 1.4 to 7.8, Phistory of AMI did not differ between the SCD and AMI groups. Male gender and current smoking were the only coronary risk factors that were more prevalent among SCD victims than among AMI survivors (Phistory of SCD have an increased risk of dying suddenly during an acute coronary event.

  1. Manifestaciones oftalmológicas de la enfermedad cerebrovascular Ophthalmological manifestations of cerebrovascular disease

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    J. Gállego

    2008-01-01

    Full Text Available El ojo constituye una diana para la enfermedad vascular. El estudio de la microcirculación retiniana constituye una oportunidad muy interesante para la valoración del riesgo vascular al conocer la relación existente entre los cambios vasculares en la retina y el riesgo de padecer un ictus. Es además una ventana excepcional para conocer mejor la fisiopatología de la microcirculación. La arteria oftálmica es la primera rama de la arteria carótida interna. La afectación ocular puede ser uni o bilateral. Los síntomas oculares o neuro-oftalmológicos son transitorios o persistentes y sus manifestaciones son muy heterogéneas abarcando alteraciones de la agudeza visual, trastornos de los campos visuales, síndromes oculomotores y manifestaciones clínicas corticales y subcorticales complejas. Su conocimiento puede resultar clave para instaurar las medidas preventivas pertinentes o establecer el correcto diagnóstico y la aproximación diagnóstica inmediata, tan importante en la atención de los procesos vasculares cerebrales.Transient or persistent loss of vision in one eye is a common and distinctive manifestation of occlusive vascular disease. Occasionally, both eyes are involved together or sequentially, with temporary or even permanent blindness. The internal carotid arteries supply blood to the organ of vision; therefore pathologies of those arteries caused by arteriosclerosis may have a direct influence on its functioning. The most common syndromes are temporary (amaurosis fugax or constant reduction of visual acuity. In fundus examination central retinal artery occlusion and branch retinal artery occlusion are the most common diagnosis, while retinal vein occlusion, anterior ischemic optic neuropathy, ocular ischemic syndrome are less common. There are many clinical ophtlamological manifestations due to vascular brain damage. Proper recognition and diagnosis of the disease may protect the patient against serious life

  2. Trends in vascular risk factors and medication use in patients with various manifestations of vascular diseases or type 2 diabetes mellitus from 1996 to 2007: the Second Manifestations of Arterial Disease (SMART) Study

    NARCIS (Netherlands)

    Vlek, A.L.M.; Visseren, F.L.J.; Algra, A.; Soedamah-Muthu, S.S.; Moll, F.L.; Doevendans, P.A.; Kappelle, L.J.; Graaf, van der Y.

    2010-01-01

    Aims: To investigate time trends in vascular risk factors and medication use for patients referred to a vascular specialist with manifest vascular disease or type 2 diabetes mellitus (DM2). Methods and results: Change in risk factor profile and medication use at referral over a 12-year period was ev

  3. Clinical practice. The impact of lung disease on the heart and cardiac disease on the lungs.

    Science.gov (United States)

    Healy, Fiona; Hanna, Brian D; Zinman, Raezelle

    2010-01-01

    Pathologies in both the respiratory and cardiovascular systems frequently coexist and impact on each other. This manuscript introduces an approach to the interpretation of this complex relationship. Pulmonary hypertension can be a significant consequence of many respiratory diseases. This in turn can lead to right ventricular dysfunction and cor pulmonale. Many childhood illnesses can result in cor pulmonale and can be conveniently grouped into three categories: idiopathic pulmonary hypertension, neonatal lung diseases, and lung disease beyond the neonatal period. When considering the impact of cardiac disease on the lung, one must consider two main pathologies: compression of the pediatric airway and increased lung water. In conclusion, thorough attention must be given to the interpretation of the complex relationship between cardiac and respiratory diseases. Pulmonary hypertension is a complication to consider in respiratory illness at all ages. In addition, when dealing with the complexities of congenital heart disease, one must always be aware of the risks of pulmonary complications whether parenchymal or airway. Ongoing improvements in ventilation strategies, vasodilator therapy, and surgical interventions continue to improve the outlook for these complex cases.

  4. Adult-onset Still's disease and cardiac tamponade: a rare association.

    Science.gov (United States)

    Carrilho-Ferreira, Pedro; Silva, Doroteia; de Jesus Silva, Maria; André, Rui; Varela, Manuel Gato; Diogo, António Nunes

    2015-06-01

    Adult-onset Still's disease is a rare disorder with potentially severe clinical features, including cardiac involvement. This systemic inflammatory disease of unknown origin should be considered in the differential diagnosis of pericarditis, with or without pericardial effusion. Cardiac tamponade is a very rare sequela that requires an invasive approach, such as percutaneous or surgical pericardial drainage, in addition to the usual conservative therapy. The authors describe a case of adult-onset Still's disease rendered more difficult by pericarditis and cardiac tamponade, and they briefly review the literature on this entity.

  5. A sodium-channel mutation causes isolated cardiac conduction disease

    NARCIS (Netherlands)

    Tan, HL; Bink-Boelkens, MTE; Bezzina, CR; Viswanathan, PC; Beaufort-Krol, GCM; van Tintelen, PJ; van den Berg, MP; Wilde, AAM; Balser, [No Value

    2001-01-01

    Cardiac conduction disorders slow the heart rhythm and cause disability in millions of people worldwide. Inherited mutations in SCN5A, the gene encoding the human cardiac sodium (Na+) channel, have been associated with rapid heart rhythms that occur suddenly and are life-threatening(1-3); however, a

  6. Susceptibility-Weighted Imaging Manifestations in the Brain of Wilson's Disease Patients.

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    Jinjing Yang

    Full Text Available It is well known that patients with Wilson's disease (WD suffer copper metabolism disorder. However, recent studies point to an additional iron metabolism disorder in WD patients. The purpose of our study was to examine susceptibility-weighted imaging (SWI manifestations of WD in the brains of WD patients.A total of 33 patients with WD and 18 normal controls underwent conventional MRI (Magnetic resonance imaging and SWI. The phase values were measured on SWI-filtered phase images of the bilateral head of the caudate nuclei, globus pallidus, putamen, thalamus, substantia nigra, and red nucleus. Student's t-tests were used to compare the phase values between WD groups and normal controls.The mean phase values for the bilateral head of the caudate nuclei, globus pallidus, putamen, thalamus, substantia nigra, and red nucleus were significantly lower than those in the control group (P < 0.001, and bilateral putamen was most strongly affected.There is paramagnetic mineralization deposition in brain gray nuclei of WD patients and SWI is an effective method to evaluate these structures.

  7. A Case of Early Disseminated Neurological Lyme Disease Followed by Atypical Cutaneous Manifestations

    Directory of Open Access Journals (Sweden)

    Vamsi Kantamaneni

    2017-01-01

    Full Text Available Lyme disease (LD is a tick-borne illness caused by Borrelia burgdorferi sensu stricto. An 80-year-old female from Pennsylvania, USA, presented to an outside hospital with fever, confusion, lower extremity weakness, and stool incontinence. CT head and MRI spine were unremarkable. An infectious work-up including lumbar puncture was negative. She was transferred to our tertiary care hospital. Patient was noted to have mild unilateral right-sided facial droop and a diffuse macular rash throughout the body. She denied any outdoor activities, tick bites, or previous rash. Intravenous ceftriaxone was started for suspected LD. The patient’s symptoms including facial droop resolved within 24 hours of antibiotic therapy. Polymerase chain reaction of the blood, IgM ELISA, and IgM Western blot testing for LD came back positive a few days after initiation of therapy. She was treated for a total of 21 days for neurological LD with complete symptom resolution. Not all patients have the classic “targetoid” EM rash on initial presentation, rash could develop after neurological manifestations, and prompt initiation of antibiotics without awaiting serology is paramount to making a quick and a full recovery. There should be a high index of suspicion for early disseminated LD, as presentations can be atypical.

  8. Dysplasia epiphysealis hemimelica (Trevor's disease: a rare case report with oral manifestations

    Directory of Open Access Journals (Sweden)

    Asha ML

    2015-04-01

    Full Text Available Dysplasia epiphysealis hemimelica, also known as Trevor's disease, is an extremely rare skeletal developmental disorder of unknown etiology, characterized by an osteocartilaginous outgrowth of one or more epiphyses or of a tarsal bone during childhood. It is a rare skeletal hemimelica disorder characterized by asymmetric growth of cartilage in one or more epiphyses. Due to the unusual presentation and variability of the picture, there is no standardized treatment and outcome is very different. Also such an unusual, unique case with craniofacial manifestations has not been reported in the literature. We report a case of a 14-year-old male, who complained of irregularly placed teeth in upper and lower front teeth region. On general physical examination we noticed some skeletal abnormalities with the patient and hence we subjected him to radiographic investigations. The images were consistent with epiphyseal dysplasia hemimelica. The prognosis of DEH is variable and depends basically on its location and size. Carriers of this unusual dysplasia should be periodically monitored for the risk of recurrence. [Int J Res Med Sci 2015; 3(4.000: 1018-1024

  9. Moyamoya disease manifested as multiple simultaneous intracerebral hemorrhages: A case report and literature review

    Science.gov (United States)

    Yu, Jinlu; Yuan, Yongjie; Li, Wei; Xu, Kan

    2016-01-01

    Multiple simultaneous intracerebral hemorrhages (MSIH) caused by Moyamoya disease (MMD) is extremely rare. To date, the clinical manifestations, imaging characteristics and mechanism of MMD-induced MSIH have not yet been elucidated. In order to improve the understanding on such cases, the present study described a rare case of MSIH caused by MMD. A 40-year-old female patient with no history of hypertension or diabetes mellitus experienced a sudden headache followed by coma. Cranial computed tomography (CT) examination revealed MSIH in the left frontal area, temporal lobe and basal ganglia. CT angiography and digital subtraction angiography examinations revealed typical characteristics of MMD. Subsequent to excluding disorders of the blood system and blood coagulation, we concluded that the present case of MSIH was caused by MMD. Hematoma evacuation and decompressive craniectomy were performed with satisfactory results. In addition, after reviewing previous MSIH cases in the literature, potential mechanisms of MMD-mediated MSIH were considered. In conclusion, MMD should be considered as a possible cause of MSIH during diagnosis and treatment. MMD can lead to pathological changes in the fragility of small arteries; therefore, rupture and hemorrhage at one site may induce a transient increase in blood pressure, causing the rupture of small arteries at other sites, and thus leading to MSIH. Hematoma evacuation and decompression should be conducted in selective cases of MMD-induced MSIH in order to achieve a good prognosis. PMID:27588064

  10. Hemoglobin, hematocrit, and changes in cerebral blood flow : The Second Manifestations of ARTerial disease-Magnetic Resonance study

    NARCIS (Netherlands)

    van der Veen, Pieternella H.; Muller, Majon; Vincken, Koen L.; Westerink, Jan; Mali, Willem P. T. M.; van der Graaf, Yolanda; Geerlings, Mirjam I.; Doevendans, PAFM

    2015-01-01

    Hemoglobin and hematocrit are important determinants of blood viscosity and arterial oxygen content and may therefore influence cerebral blood flow (CBF). We examined cross-sectional and prospective associations of hemoglobin and hematocrit with CBF in 569 patients with manifest arterial disease (me

  11. Recreating the Cardiac Microenvironment in Pluripotent Stem Cell Models of Human Physiology and Disease.

    Science.gov (United States)

    Atmanli, Ayhan; Domian, Ibrahim John

    2016-12-19

    The advent of human pluripotent stem cell (hPSC) biology has opened unprecedented opportunities for the use of tissue engineering to generate human cardiac tissue for in vitro study. Engineering cardiac constructs that recapitulate human development and disease requires faithful recreation of the cardiac niche in vitro. Here we discuss recent progress in translating the in vivo cardiac microenvironment into PSC models of the human heart. We review three key physiologic features required to recreate the cardiac niche and facilitate normal cardiac differentiation and maturation: the biochemical, biophysical, and bioelectrical signaling cues. Finally, we discuss key barriers that must be overcome to fulfill the promise of stem cell biology in preclinical applications and ultimately in clinical practice.

  12. Early manifestations of gastric autoimmunity in patients with juvenile autoimmune thyroid diseases.

    Science.gov (United States)

    Segni, Maria; Borrelli, Osvaldo; Pucarelli, Ida; Delle Fave, Gianfranco; Pasquino, Anna Maria; Annibale, Bruno

    2004-10-01

    Juvenile patients affected with autoimmune thyroid disorders showed a 14-21% prevalence of parietal cell antibodies (PCA) reacting against the H+/K+-ATPase of the gastric parietal cells. PCA are the principal immunological markers of atrophic body gastritis (ABG).ABG is characterized by loss of oxyntic glands, achlorhydria, and hypergastrinemia. The aim of this study was to determine whether PCA positivity could be associated with biochemical and histological manifestations of gastric autoimmunity in juvenile patients with autoimmune thyroid disease (AITD). We studied 129 children (96 females and 33 males) with chronic lymphocytic thyroiditis (n = 115) or Graves' disease (n = 14). Mean age at diagnosis of AITD was 9.7 +/- 3.3 yr, and mean age at sampling was 12.3 +/- 3.7 yr. We determined PCA and Helicobacter pylori antibodies, gastrin, and pepsinogen I plasma levels. Gastroscopy with multiple biopsies was carried out in a subgroup of patients with PCA positivity. We found that 30% of children had detectable PCA. Hypergastrinemia was found in 45% of the PCA-positive children (range, 40-675 pg/ml) vs. 12% of PCA-negative children (range, 35-65 pg/ml; P < 0.001). Eighteen patients with PCA positivity underwent gastroscopy; eight of these children had normogastrinemia, which showed no signs of ABG, and 10 children had hypergastrinemia, of whom five had mild to severe ABG. Our study shows that autoimmune gastritis is an early event in juvenile AITD with detectable PCA. Gastrin plasma level is a reliable marker of gastric atrophy.

  13. Clinical and microbiological characteristics of unusual manifestations of invasive pneumococcal disease.

    Science.gov (United States)

    Sousa, Adrian; Pérez-Rodríguez, Maria Teresa; Nodar, Andrés; Martínez-Lamas, Lucía; Vasallo, Francisco Jose; Álvarez-Fernández, Maximiliano; Crespo, Manuel

    2017-06-22

    Invasive pneumococcal disease (IPD) typically presents as bacterial pneumonia, meningitis or primary bacteraemia. However, Streptococcus pneumoniae can produce infection at any level of the body (endocarditis, arthritis, spontaneous bacterial peritonitis, etc.), which is also known as unusual IPD (uIPD). There are very limited data available about the clinical and microbiological profile of these uncommon manifestations of pneumococcal disease. Our aim was to analyse clinical forms, microbiological profile, epidemiology and prognosis of a cohort of patients with unusual invasive pneumococcal disease (uIPD). We present a retrospective study of 389 patients (all adult and paediatric patients diagnosed during the period) diagnosed with IPD at our hospital (Complejo Hospitalario Universitario de Vigo) between 1992 and 2014. We performed an analysis of clinical, microbiological and demographical characteristics of patients comparing the pre-pneumococcal conjugate vaccine (PCV) period with the post-vaccination phase. IPD and uIPD were defined as follows; IPD: infection confirmed by the isolation of S. pneumoniae from a normally sterile site, which classically presented as bacterial pneumonia, meningitis or primary bacteraemia; uIPD: any case of IPD excluding pneumonia, meningitis, otitis media, rhinosinusitis or primary bacteraemia. A total of 22 patients (6%) met the criteria of uIPD. A Charlson index >2 was more prevalent in uIPD patients than IPD patients (45% vs 24%; p=0.08). The most common clinical presentation of uIPD was osteoarticular infection (8 patients, 36%), followed by gastrointestinal disease (4 patients, 18%). Infection with serotypes included in PCV-13 was significantly higher in IPD patients (65%) than in patients with uIPD, 35% (p=0.018). Conversely, infection with multidrug-resistant strains was higher among patient with uIPD (27% vs 9%; p=0.014). The all-cause mortality rate was 15%, 13% in the IPD group and 32% among patients with uIPD (p=0

  14. 3D engineered cardiac tissue models of human heart disease: learning more from our mice.

    Science.gov (United States)

    Ralphe, J Carter; de Lange, Willem J

    2013-02-01

    Mouse engineered cardiac tissue constructs (mECTs) are a new tool available to study human forms of genetic heart disease within the laboratory. The cultured strips of cardiac cells generate physiologic calcium transients and twitch force, and respond to electrical pacing and adrenergic stimulation. The mECT can be made using cells from existing mouse models of cardiac disease, providing a robust readout of contractile performance and allowing a rapid assessment of genotype-phenotype correlations and responses to therapies. mECT represents an efficient and economical extension to the existing tools for studying cardiac physiology. Human ECTs generated from iPSCMs represent the next logical step for this technology and offer significant promise of an integrated, fully human, cardiac tissue model.

  15. Neurological and cardiac complications in a cohort of children with end-stage renal disease

    Directory of Open Access Journals (Sweden)

    Jumana H Albaramki

    2016-01-01

    Full Text Available Adult patients with chronic kidney disease are at risk of major neurologic and cardiac complications. The purpose of this study is to review the neurological and cardiac complications in children with end-stage renal disease (ESRD. A retrospective review of medical records of children with ESRD at Jordan University Hospital was performed. All neurological and cardiac events were recorded and analyzed. Data of a total of 68 children with ESRD presenting between 2002 and 2013 were reviewed. Neurological complications occurred in 32.4%; seizures were the most common event. Uncontrolled hypertension was the leading cause of neurological events. Cardiac complications occurred in 39.7%, the most common being pericardial effusion. Mortality from neurological complications was 45%. Neurological and cardiac complications occurred in around a third of children with ESRD with a high mortality rate. More effective control of hypertension, anemia, and intensive and gentle dialysis are needed.

  16. Neurological and cardiac complications in a cohort of children with end-stage renal disease.

    Science.gov (United States)

    Albaramki, Jumana H; Al-Ammouri, Iyad A; Akl, Kamal F

    2016-05-01

    Adult patients with chronic kidney disease are at risk of major neurologic and cardiac complications. The purpose of this study is to review the neurological and cardiac complications in children with end-stage renal disease (ESRD). A retrospective review of medical records of children with ESRD at Jordan University Hospital was performed. All neurological and cardiac events were recorded and analyzed. Data of a total of 68 children with ESRD presenting between 2002 and 2013 were reviewed. Neurological complications occurred in 32.4%; seizures were the most common event. Uncontrolled hypertension was the leading cause of neurological events. Cardiac complications occurred in 39.7%, the most common being pericardial effusion. Mortality from neurological complications was 45%. Neurological and cardiac complications occurred in around a third of children with ESRD with a high mortality rate. More effective control of hypertension, anemia, and intensive and gentle dialysis are needed.

  17. Exercise-Based Cardiac Rehabilitation for Coronary Heart Disease: Cochrane Systematic Review and Meta-Analysis

    National Research Council Canada - National Science Library

    Anderson, Lindsey; Oldridge, Neil; Thompson, David R; Zwisler, Ann-Dorthe; Rees, Karen; Martin, Nicole; Taylor, Rod S

    2016-01-01

    Although recommended in guidelines for the management of coronary heart disease (CHD), concerns have been raised about the applicability of evidence from existing meta-analyses of exercise-based cardiac rehabilitation...

  18. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the american heart association

    OpenAIRE

    Donofrio, MT; Moon-Grady, AJ; Hornberger, LK; Copel, JA; Sklansky, MS; Abuhamad, A; Cuneo, BF; Huhta, JC; Jonas, RA; Krishnan, A.; Lacey, S; W. Lee; Michelfelder, EC; Rempel, GR; Silverman, NH

    2014-01-01

    Background - The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results - A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of card...

  19. Extra-renal manifestations of autosomal dominant polycystic kidney disease (ADPKD): considerations for routine screening and management.

    Science.gov (United States)

    Luciano, Randy L; Dahl, Neera K

    2014-02-01

    Autosomal-dominant polycystic kidney disease (ADPKD) is a systemic disease, marked by progressive increase of bilateral renal cysts, resulting in chronic kidney disease (CKD) and often leading to end-stage renal disease (ESRD). Apart from renal cysts, patients often have extra-renal disease, involving the liver, heart and vasculature. Other less common but equally important extra-renal manifestations of ADPKD include diverticular disease, hernias, male infertility and pain. Extra-renal disease burden is often asymptomatic, but may result in increased morbidity and mortality. If the disease burden is significant, screening may prove beneficial. We review the rationale for current screening recommendations and propose some guidelines for screening and management of ADPKD patients.

  20. Acute effects of riociguat in borderline or manifest pulmonary hypertension associated with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Ghofrani, Hossein A; Staehler, Gerd; Grünig, Ekkehard; Halank, Michael; Mitrovic, Veselin; Unger, Sigrun; Mueck, Wolfgang; Frey, Reiner; Grimminger, Friedrich; Schermuly, Ralph T; Behr, Juergen

    2015-06-01

    Riociguat is the first oral soluble guanylate cyclase stimulator shown to improve pulmonary hemodynamics in patients with pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension (PH). This pilot study assessed the impact of a single dose of riociguat on hemodynamics, gas exchange, and lung function in patients with PH associated with chronic obstructive pulmonary disease (COPD). Adults with COPD-associated borderline or manifest PH (pulmonary vascular resistance > 270 dyn·s·cm(-5), mean pulmonary artery pressure ≥ 23 mmHg, ratio of forced expiratory volume in 1 second [FEV1] to forced vital capacity 70%, and partial pressure of oxygen and carbon dioxide in arterial blood > 50 and ≤ 55 mmHg, respectively) received riociguat 1 or 2.5 mg during right heart catheterization. Twenty-two patients completed the study (11 men, 11 women, aged 56-82 years; 1-mg group: n = 10 [mean FEV1: 43.1%]; 2.5-mg group: n = 12 [mean FEV1: 41.2%]). Riociguat caused significant improvements (P mmHg [-11.44%]; 2.5 mg: -4.83 mmHg [-14.76%]) and pulmonary vascular resistance (1 mg: -58.32 dyn·s·cm(-5) [-15.35%]; 2.5 mg: -123.8 dyn·s·cm(-5) [-32.96%]). No relevant changes in lung function or gas exchange were observed. Single doses of riociguat were well tolerated and showed promising hemodynamic effects without untoward effects on gas exchange or lung function in patients with COPD-associated PH. Placebo-controlled studies of chronic treatment with riociguat are warranted.

  1. Nephrolithiasis as a common urinary system manifestation of inflammatory bowel diseases; a clinical review and meta-analysis.

    Science.gov (United States)

    Ganji-Arjenaki, Mahboube; Nasri, Hamid; Rafieian-Kopaei, Mahmoud

    2017-07-01

    The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. For this review, we used a variety of sources by searching through Web of Science, PubMed, EMBASE, Scopus and directory of open access journals (DOAJ). Urinary complications may occur in up to 22% of patients and nephrolithiasis or renal/kidney stones have been suggested to be a common manifestation of disease in forms of uric acid, calcium phosphate or calcium oxalate. We performed a meta-analysis on five clinical trials and reported that correlation between IBD and formation of stone in renal system is positive and significant (Fix-effect model; CI: 95%, P <0.001, and randomeffect model; CI: 95%, P = 0.03). Based on the reports of the clinical trials, calcium oxalate is more prevalent in Crohn's disease (CD) than in ulcerative colitis (UC).

  2. Cardiac Arrhythmias in Patients with Chronic Kidney Disease: Implications of Renal Failure for Antiarrhythmic Drug Therapy.

    Science.gov (United States)

    Potpara, Tatjana S; Jokic, Vera; Dagres, Nikolaos; Marin, Francisco; Prostran, Milica S; Blomstrom-Lundqvist, Carina; Lip, Gregory Y H

    2016-01-01

    The kidney has numerous complex interactions with the heart, including shared risk factors (e.g., hypertension, dyslipidemia, etc.) and mutual amplification of morbidity and mortality. Both cardiovascular diseases and chronic kidney disease (CKD) may cause various alterations in cardiovascular system, metabolic homeostasis and autonomic nervous system that may facilitate the occurrence of cardiac arrhythmias. Also, pre-existent or incident cardiac arrhythmias such as atrial fibrillation (AF) may accelerate the progression of CKD. Patients with CKD may experience various cardiac rhythm disturbances including sudden cardiac death. Contemporary management of cardiac arrhythmias includes the use of antiarrhythmic drugs (AADs), catheter ablation and cardiac implantable electronic devices (CIEDs). Importantly, AADs are not used only as the principal treatment strategy, but also as an adjunct therapy in combination with CIEDs, to facilitate their effects or to minimize inappropriate device activation in selected patients. Along with their principal antiarrhythmic effect, AADs may also induce cardiac arrhythmias and the risk for such proarrhythmic effect(s) is particularly increased in patients with reduced left ventricular systolic function or in the setting of electrolyte imbalance. Moreover, CKD itself can induce profound alterations in the pharmacokinetics and pharmacodynamics of many drugs including AADs, thus facilitating the drug accumulation and increased exposure. Hence, the use of AADs in patients with CKD may be challenging. In this review article, we provide an overview of the characteristics of arrhythmogenesis in patients with CKD with special emphasis on the complexity of pharmacokinetics and risk for proarrhythmias when using AADs in patients with cardiac arrhythmias and CKD.

  3. A multicentre study of Shigella diarrhoea in six Asian countries: disease burden, clinical manifestations, and microbiology.

    Directory of Open Access Journals (Sweden)

    Lorenz von Seidlein

    2006-09-01

    Full Text Available The burden of shigellosis is greatest in resource-poor countries. Although this diarrheal disease has been thought to cause considerable morbidity and mortality in excess of 1,000,000 deaths globally per year, little recent data are available to guide intervention strategies in Asia. We conducted a prospective, population-based study in six Asian countries to gain a better understanding of the current disease burden, clinical manifestations, and microbiology of shigellosis in Asia.Over 600,000 persons of all ages residing in Bangladesh, China, Pakistan, Indonesia, Vietnam, and Thailand were included in the surveillance. Shigella was isolated from 2,927 (5% of 56,958 diarrhoea episodes detected between 2000 and 2004. The overall incidence of treated shigellosis was 2.1 episodes per 1,000 residents per year in all ages and 13.2/1,000/y in children under 60 months old. Shigellosis incidence increased after age 40 years. S. flexneri was the most frequently isolated Shigella species (1,976/2,927 [68%] in all sites except in Thailand, where S. sonnei was most frequently detected (124/146 [85%]. S. flexneri serotypes were highly heterogeneous in their distribution from site to site, and even from year to year. PCR detected ipaH, the gene encoding invasion plasmid antigen H in 33% of a sample of culture-negative stool specimens. The majority of S. flexneri isolates in each site were resistant to amoxicillin and cotrimoxazole. Ciprofloxacin-resistant S. flexneri isolates were identified in China (18/305 [6%], Pakistan (8/242 [3%], and Vietnam (5/282 [2%].Shigella appears to be more ubiquitous in Asian impoverished populations than previously thought, and antibiotic-resistant strains of different species and serotypes have emerged. Focusing on prevention of shigellosis could exert an immediate benefit first by substantially reducing the overall diarrhoea burden in the region and second by preventing the spread of panresistant Shigella strains. The

  4. Cardiovascular disease and renal insufficiency:special considerations with cardiac surgery

    Institute of Scientific and Technical Information of China (English)

    Colin Lenihan; Donal Reddan

    2005-01-01

    Cardiovascular disease is an important cause of mortality in the chronic kidney disease (CKD) population. This review discusses cardiac surgery in the CKD population and considers ostoperative acute renal failure (ARF). CKD patients have worse outcomes following coronary artery bypass grafting (CABG) and cardiac valvular surgery than the general population. However,surgical revascularization is an effective treatment for coronary artery disease (CAD) in this population and may be associated with improved survival over percutaneous intervention (PCI) in advanced CKD. Cardiac surgery in the CKD population requires careful perioperative planning and management. Acute renal failure (ARF) is a serious complication following cardiac surgery, occurring in 1 to 8% of cases. Management of postoperative ARF is largely supportive and emphasis is placed on preoperative risk stratification and prevention.

  5. Manifestaciones retinianas de las enfermedades infecciosas Retinal manifestations of infectious diseases

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    M. Pérez de Arcelus

    2008-01-01

    Full Text Available La retina y la coroides son estructuras ricamente vascularizadas por lo que pueden ser colonizadas por gérmenes a través de la vía hematógena en el curso de una enfermedad infecciosas sistémica. Los gérmenes responsables de este tipo de infección pueden ser hongos, virus, bacterias y parásitos. Entre estas colonizaciones destaca por su frecuencia la candidiasis ocular, que se puede manifestar como una endoftalmitis de curso lento y larvado. El presunto síndrome de histoplasmosis ocular, aun siendo infrecuente en nuestro medio, es una causa importante de neovascularización coroidea. Los virus que con más frecuencia afectan la retina son del tipo herpes pudiendo producir un cuadro devastador en pacientes inmunocompetentes denominado síndrome de necrosis retiniana aguda. La retinitis por citomegalovirus es más frecuente en pacientes inmunodeprimidos como es el caso del SIDA, pero también se debe tener en cuenta en pacientes con linfoma y tratamiento inmunomodulador. Las enfermedades bacterianas más frecuentes que afectan la retina son la sífilis y la tuberculosis. La enfermedad por arañazo de gato, causada por una borrelia, puede producir una neuroretinitis. La toxoplasmosis es la enfermedad infecciosa de origen parasitario más frecuente y causa una coriorretinitis. La toxocariasis también causada por un parásito es la segunda más importante dando lugar a granulomas coroideos y tracciones retinianas.The retina and the choroids are richly vascularised structures and can therefore be colonised by germs via the haematogenous route in the course of a systemic infectious disease. The germs responsible for this type of infection can be fungi, viruses, bacteria and parasites. Ocular candidiasis is outstanding amongst these colonisations because of its frequency; it can manifest itself as an endophthalmitis with a slow and hidden course. The so-called ocular histoplasmosis syndrome, although it is infrequent in our setting, is an

  6. Cardiac imaging in patients with chronic liver disease.

    Science.gov (United States)

    Wiese, Signe; Hove, Jens D; Møller, Søren

    2017-07-01

    Cirrhotic cardiomyopathy (CCM) is characterized by an impaired contractile response to stress, diastolic dysfunction and the presence of electrophysiological abnormalities, and it may be diagnosed at rest in some patients or demasked by physiological or pharmacological stress. CCM seems to be involved in the development of hepatic nephropathy and is associated with an impaired survival. In the field of cardiac imaging, CCM is not yet a well-characterized entity, hence various modalities of cardiac imaging have been applied. Stress testing with either physiologically or pharmacologically induced circulatory stress has been used to assess systolic dysfunction. Whereas echocardiography with tissue Doppler is by far the most preferred method to detect diastolic dysfunction with measurement of E/A- and E/E'-ratio. In addition, echocardiography may also possess the potential to evaluate systolic dysfunction at rest by application of new myocardial strain techniques. Experience with other modalities such as cardiac magnetic resonance imaging and cardiac computed tomography is limited. Future studies exploring these imaging modalities are necessary to characterize and monitor the cardiac changes in cirrhotic patients. © 2015 Scandinavian Society of Clinical Physiology and Nuclear Medicine. Published by John Wiley & Sons Ltd.

  7. Preventing Long-Term Cardiac Damage in Pediatric Patients With Kawasaki Disease.

    Science.gov (United States)

    Williams, Kelly

    Kawasaki disease is currently the leading cause of long-term cardiac damage in pediatric patients in the United States. Kawasaki disease is diagnosed based on symptomatology and by ruling out other etiology. There is a significant need for an improved, standardized treatment protocol for patients diagnosed with Kawasaki disease and a more rapid initiation of treatment for these patients. Decreasing the cardiac damage caused by Kawasaki disease with timely diagnosis and treatment needs be a principal goal. Copyright © 2016 National Association of Pediatric Nurse Practitioners. Published by Elsevier Inc. All rights reserved.

  8. Association of immune response to endothelial cell growth factor with early disseminated and late manifestations of Lyme disease but not posttreatment Lyme disease syndrome.

    Science.gov (United States)

    Tang, Kevin S; Klempner, Mark S; Wormser, Gary P; Marques, Adriana R; Alaedini, Armin

    2015-12-01

    Endothelial cell growth factor has been recently proposed as a potential autoantigen in manifestations of Lyme disease that are thought to involve immune-mediated mechanisms. Our findings indicate that a humoral immune response to this protein is not associated with posttreatment Lyme disease syndrome. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  9. Long-Term Clinical Outcomes According to Previous Manifestations of Atherosclerotic Disease (from the FAST-MI 2010 Registry).

    Science.gov (United States)

    Puymirat, Etienne; Aissaoui, Nadia; Lemesle, Gilles; Cottin, Yves; Coste, Pierre; Schiele, François; Ferrières, Jean; Simon, Tabassome; Danchin, Nicolas

    2017-03-01

    The prognosis of patients with acute myocardial infarction (AMI) has notably improved in the past 20 years. Using the French Registry of ST-Elevation and Non-ST-elevation Myocardial Infarction (FAST-MI) 2010 registry, we investigated whether previous manifestations of atherosclerotic disease (i.e., previous MI, or a history of any form of atherosclerotic disease) are at truly increased risk compared with those in whom AMI is the first manifestation of the disease. FAST-MI 2010 is a nationwide French registry including 3,079 patients with AMI, among whom 1,062 patients had a history of cardiovascular atherosclerotic disease and 498 patients had a history of MI. Overall, patients with a history of atherosclerotic disease (or MI) were older compared with patients without known cardiovascular disease (71 ± 13 vs 63 ± 14 years) and had higher cardiovascular risk profiles and co-morbidities. Using fully adjusted Cox multivariate analysis, previous manifestations of atherosclerotic disease were associated with higher 3-year mortality (hazard ratio 1.80, 95% confidence interval 1.40 to 2.31; p <0.001) as history of previous MI alone (hazard ratio 1.32, 95% confidence interval 1.00 to 1.73; p = 0.048). Similar results were found in patients discharged alive. In conclusion, previous cardiovascular atherosclerotic disease represents 1/3 of patients with AMI and are strongly associated with worse long-term clinical outcomes. Intensive follow-up and therapy should be encouraged in this high-risk population.

  10. Rheumatic manifestations of primary and metastatic bone tumors and paraneoplastic bone disease.

    Science.gov (United States)

    Waimann, Christian A; Lu, Huifang; Suarez Almazor, Maria E

    2011-11-01

    Bone tumors can show a wide range of nonspecific rheumatic manifestations. The presence of unexplained or atypical chronic bone pain, an enlarging bone mass, neurovascular compression syndromes, or pathologic fractures should alert us to the possibility of a bone tumor causing these symptoms. These patients must undergo a complete physical examination; adequate imaging; and, if needed, a biopsy to confirm their diagnosis and offer them an opportune treatment. In addition, bone tumors and other malignancies can present remote clinical manifestations and unusual laboratory findings (eg, HOA, hypophosphatemia, hyperphosphaturia, and hypercalcemia) that may be the first and early manifestation of an occult cancer. These findings should motivate a cancer screening according to age, sex, and personal history. Cancer therapies also have a big impact on bone health, increasing the risk of osteoporosis, osteomalacia, and/or osteonecrosis. Rheumatologists should be aware of possible long-term adverse events of cancer treatment to avoid future complications.

  11. Cost-effectiveness of new cardiac and vascular rehabilitation strategies for patients with coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Sandra Spronk

    Full Text Available OBJECTIVE: Peripheral arterial disease (PAD often hinders the cardiac rehabilitation program. The aim of this study was evaluating the relative cost-effectiveness of new rehabilitation strategies which include the diagnosis and treatment of PAD in patients with coronary artery disease (CAD undergoing cardiac rehabilitation. DATA SOURCES: Best-available evidence was retrieved from literature and combined with primary data from 231 patients. METHODS: We developed a markov decision model to compare the following treatment strategies: 1. cardiac rehabilitation only; 2. ankle-brachial index (ABI if cardiac rehabilitation fails followed by diagnostic work-up and revascularization for PAD if needed; 3. ABI prior to cardiac rehabilitation followed by diagnostic work-up and revascularization for PAD if needed. Quality-adjusted-life years (QALYs, life-time costs (US $, incremental cost-effectiveness ratios (ICER, and gain in net health benefits (NHB in QALY equivalents were calculated. A threshold willingness-to-pay of $75,000 was used. RESULTS: ABI if cardiac rehabilitation fails was the most favorable strategy with an ICER of $44,251 per QALY gained and an incremental NHB compared to cardiac rehabilitation only of 0.03 QALYs (95% CI: -0.17, 0.29 at a threshold willingness-to-pay of $75,000/QALY. After sensitivity analysis, a combined cardiac and vascular rehabilitation program increased the success rate and would dominate the other two strategies with total lifetime costs of $30,246 a quality-adjusted life expectancy of 3.84 years, and an incremental NHB of 0.06 QALYs (95%CI:-0.24, 0.46 compared to current practice. The results were robust for other different input parameters. CONCLUSION: ABI measurement if cardiac rehabilitation fails followed by a diagnostic work-up and revascularization for PAD if needed are potentially cost-effective compared to cardiac rehabilitation only.

  12. Cardiac Hemodynamics in the Pathogenesis of Congenital Heart Disease and Aortic Valve Calcification

    Science.gov (United States)

    Nigam, Vishal

    2011-11-01

    An improved understanding of the roles of hemodynamic forces play in cardiac development and the pathogenesis of cardiac disease will have significant scientific and clinical impact. I will focus on the role of fluid dynamics in congenital heart disease and aortic valve calcification. Congenital heart defects are the most common form of birth defect. Aortic valve calcification/stenosis is the third leading cause of adult heart disease and the most common form of acquired valvular disease in developed countries. Given the high incidence of these diseases and their associated morbidity and mortality, the potential translational impact of an improved understanding of cardiac hemodynamic forces is very large. Division of Pediatric Cardiology, Rady Children's Hospital, San Diego

  13. Diagnosis and clinical manifestations of calcium pyrophosphate and basic calcium phosphate crystal deposition diseases.

    Science.gov (United States)

    Ea, Hang-Korng; Lioté, Frédéric

    2014-05-01

    Basic calcium phosphate and pyrophosphate calcium crystals are the 2 main calcium-containing crystals that can deposit in all skeletal tissues. These calcium crystals give rise to numerous manifestations, including acute inflammatory attacks that can mimic alarming and threatening differential diagnoses, osteoarthritis-like lesions, destructive arthropathies, and calcific tendinitis. Awareness of uncommon localizations and manifestations such as intraspinal deposition (eg, crowned dens syndrome, tendinitis of longus colli muscle, massive cervical myelopathy compression) prevents inappropriate procedures and cares. Coupling plain radiography, ultrasonography, computed tomography, and synovial fluid analysis allow accurate diagnosis by directly or indirectly identifying the GRAAL of microcrystal-related symptoms.

  14. Application of Cardiac Troponin in Cardiovascular Diseases Other Than Acute Coronary Syndrome.

    Science.gov (United States)

    Eggers, Kai M; Lindahl, Bertil

    2017-01-01

    Increased cardiac troponin concentrations in acute coronary syndrome (ACS) identify patients with ongoing cardiomyocyte necrosis who are at increased risk. However, with the use of more precise assays, cardiac troponin increases are commonly noted in other cardiovascular conditions as well. This has generated interest in the use of cardiac troponin for prognostic assessment and clinical management of these patients. In this review, we have summarized the data from studies investigating the implications of cardiac troponin concentrations in various acute and chronic conditions beyond ACS, i.e., heart failure, myocarditis, Takotsubo cardiomyopathy, aortic dissection, supraventricular arrhythmias, valve disease, pulmonary arterial hypertension, stroke, and in the perioperative setting. Cardiac troponin concentrations are often detectable and frankly increased in non-ACS conditions, in particular when measured with high-sensitivity (hs) assays. With the exception of myocarditis and Takotsubo cardiomyopathy, cardiac troponin concentrations carry strong prognostic information, mainly with respect to mortality, or incipient and/or worsening heart failure. Studies investigating the prognostic benefit associated with cardiac troponin-guided treatments however, are almost lacking and the potential role of cardiac troponin in the management of non-ACS conditions is not defined. Increased cardiac troponin indicates increased risk for adverse outcome in patients with various cardiovascular conditions beyond ACS. Routine measurement of cardiac troponin concentrations can however, not be generally recommended unless there is a suspicion of ACS. Nonetheless, any finding of an increased cardiac troponin concentration in a patient without ACS should at least prompt the search for possible underlying conditions and these should be managed meticulously according to current guidelines to improve outcome. © 2016 American Association for Clinical Chemistry.

  15. Pulmonary lymphangioleiomyomatosis: Analysis of disease manifestation by region-based quantification of lung parenchyma

    Energy Technology Data Exchange (ETDEWEB)

    Theilig, D., E-mail: dorothea.theilig@charite.de [Charité, Universitätsmedizin Berlin, Department of Radiology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin (Germany); Doellinger, F. [Charité, Universitätsmedizin Berlin, Department of Radiology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin (Germany); Kuhnigk, J.M. [Fraunhofer MEVIS, Universitaetsallee 29, 28359 Bremen (Germany); Temmesfeld-Wollbrueck, B.; Huebner, R.H. [Charité, Department of Pneumology, Augustenburger Platz 1, 13353 Berlin (Germany); Schreiter, N.; Poellinger, A. [Charité, Universitätsmedizin Berlin, Department of Radiology, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin (Germany)

    2015-04-15

    Highlights: •The distribution of cystic lesions in LAM was evaluated with quantitative CT. •There were more cystic lesions in the central lung compared to peripheral areas. •Cystic changes were more frequent in apical two thirds compared to lower third. •Results might help to obviate the need for biopsy in more cases. -- Abstract: Purpose: Lymphangioleiomyomatosis (LAM) is characterized by proliferation of smooth muscle tissue that causes bronchial obstruction and secondary cystic destruction of lung parenchyma. The aim of this study was to evaluate the typical distribution of cystic defects in LAM with quantitative volumetric chest computed tomography (CT). Materials and methods: CT examinations of 20 patients with confirmed LAM were evaluated with region-based quantification of lung parenchyma. Additionally, 10 consecutive patients were identified who had recently undergone CT imaging of the lung at our institution, in which no pathologies of the lung were found, to serve as a control group. Each lung was divided into three regions (upper, middle and lower thirds) with identical number of slices. In addition, we defined a “peel” and “core” of the lung comprising the 2 cm subpleural space and the remaining inner lung area. Computerized detection of lung volume and relative emphysema was performed with the PULMO 3D software (v3.42, Fraunhofer MEVIS, Bremen, Germany). This software package enables the quantification of emphysematous lung parenchyma by calculating the pixel index, which is defined as the ratio of lung voxels with a density <−950 HU to the total number of voxels in the lung. Results: Cystic changes accounted for 0.1–39.1% of the total lung volume in patients with LAM. Disease manifestation in the central lung was significantly higher than in peripheral areas (peel median: 15.1%, core median: 20.5%; p = 0.001). Lower thirds of lung parenchyma showed significantly less cystic changes than upper and middle lung areas combined (lower

  16. Specific systemic lupus erythematosus disease manifestations in the six months prior to conception are associated with similar disease manifestations during pregnancy.

    Science.gov (United States)

    Tedeschi, S K; Massarotti, E; Guan, H; Fine, A; Bermas, B L; Costenbader, K H

    2015-10-01

    Past studies have focused on aggregate lupus disease activity during pregnancy and have produced conflicting results. Our study evaluated lupus activity based on involvement of five specific organ systems during the six months prior to conception and during pregnancy. We assessed 147 pregnancies among 113 women followed at Brigham and Women's Lupus Center, 1990-2013. Organ-specific activity included hematologic disorder, nephritis, skin disease, arthritis, and serositis. We hypothesized that the presence of organ-specific activity six months prior to conception would increase the risk for that same type of activity during pregnancy. Our study population was 68% white; 100% had a positive ANA and 30% had a history of nephritis. Among women with organ-specific lupus activity during the six months before conception, the crude odds for the same type of activity during pregnancy was 7.7- to 32.5-fold higher compared to women without that type of activity immediately before conception. An adjusted logistic regression model also indicated significantly higher odds of organ-specific activity during pregnancy if that type of activity were present six months before conception. Approaching lupus based on specific organ systems may be a useful way for women and their physicians to consider the potential risk for disease activity during pregnancy.

  17. Functional Alterations of Ion Channels From Cardiac Fibroblasts in Heart Diseases

    Directory of Open Access Journals (Sweden)

    Gracious R. Ross

    2016-11-01

    Full Text Available In an aged population, cardiovascular disease is the leading cause of fatality and morbidity. Age-related fibrotic remodeling of the heart contributes to progressive myocardial dysfunction. Cardiac fibroblasts (CF, responsible for the maintenance of extracellular matrix and fibrosis process, play an important role in cardiac health and disease. CFs influence myocardial function by their chemical, electrical and mechanical interactions with cardiomyocytes through extracellular matrix deposition or secretion of cytokines and growth factors. These, in turn, are modulated by ion channels, macromolecular pores in the plasma membrane that allow selective ionic fluxes of major ions like K+, Ca2+, Na+ or Cl-, which affect membrane potential and cellular signal transduction. The importance of ion channels in modulating various functions of CFs, including proliferation, differentiation, secretion and apoptosis, is being recognized from recent studies of CFs from animal models and tissue from patients with various cardiac pathologies. Understanding the role of ion channels in CFs under physiological conditions and their alterations in age-related cardiac diseases may help facilitate development of novel therapeutic strategies to limit cardiac fibrosis and its adverse effect on myocardial function. This narrative review summarizes the knowledge gained thus far on ion channels in CFs and their relationship with cardiac diseases in human and experimental animal models.

  18. Plasma calprotectin and its association with cardiovascular disease manifestations, obesity and the metabolic syndrome in type 2 diabetes mellitus patients

    DEFF Research Database (Denmark)

    Pedersen, Lise; Nybo, M.; Poulsen, M. K.

    2014-01-01

    Background: Plasma calprotectin is a potential biomarker of cardiovascular disease (CVD), insulin resistance (IR), and obesity. We examined the relationship between plasma calprotectin concentrations, CVD manifestations and the metabolic syndrome (MetS) in patients with type 2 diabetes mellitus (T2...... associated with obesity, MetS status, autonomic neuropathy, PAD, and MI. However, plasma calprotectin was not an independent predictor of CVD, MI, autonomic neuropathy or PAD....

  19. Risk factors and risk index of cardiac events in pregnant women with heart disease

    Institute of Scientific and Technical Information of China (English)

    LIU Hua; HUANG Tao-tao; LIN Jian-hua

    2012-01-01

    Background Pregnant women with heart disease are at high risk.Studies of risk factors of these patients are of great significance to improve maternal and fetal outcomes.In this paper,we try to discuss the main risk factors of cardiac events in pregnant women with heart disease and to establish a risk assessment system.Methods A retrospective analysis was carried out for pregnancies in 1741 women with heart disease who delivered in Shanghai Obstetrical Cardiology Intensive Care Center between January 1993 and September 2010.A Logistic regression model was used to identify independent risk factors of cardiac events and calculate the risk index in pregnant women with heart disease.Results The composition of heart disease in pregnant women was arrhythmia (n=662,38.00%),congenital heart disease (CHD; n=529,30.40%),cardiomyopathy (n=327,18.80%),rheumatic heart disease (RHD; n=151,8.70%),and cardiopathy induced by pre-eclampsia (n=53,3.00%).Main cardiac events were heart failure (n=110,6.32%),symptomatic arrhythmia needing medication (n=43,2.47%),cardiac arrest (n=2,0.11%),syncope (n=3,0.17%),and maternal death (n=10,0.57%).Six independent risk factors to predict cardiac events in pregnant women with heart disease were cardiac events before pregnancy (heart failure,severe arrhythmia,cardiac shock,etc.,P=0.000),New York Heart Association (NYHA) class >ll (P=0.000),oxygen saturation <90% (P=0.018),pulmonary artery hypertention (PAH)>50 mmHg (P=0.025),cyanotic heart disease without surgical correction (P=0.015),and reduced left ventricular systolic function (ejection fraction <40%,P=0.003).Every risk factor was calculated as 1 score.The incidence of cardiac events in patients with scores 0,1,2,3,and ≥4 was 2.10%,31.61%,61.25%,68.97%,and 100.00% respectively.Conclusions Pregnancy with heart disease could lead to undesirable pregnancy outcomes.The risk of cardiac events in pregnant women with heart disease could be assessed by risk

  20. Relationship between Peripheral Artery Disease and Cardiac Function in Elderly Patients with Ischemic Heart Disease

    Directory of Open Access Journals (Sweden)

    Moatasem S Amer*, Heba M Tawfik*, Manar MA Maamoun*, Ayman M Abd Elmoteleb

    2013-04-01

    Full Text Available Background: There is high prevalence of combined peripheral and coronary artery disease (CAD related to atherosclerosis with associated increase in morbidity and mortality . Objectives:The aim of our study was to find an association between ankle brachial index (ABI and cardiac function in elderly patients with CAD using ejection fraction (EF.Method: A Case control study. The case group included 100 elderly patients who had peripheral artery disease ( PAD divided into 2 groups according to age ( 60- 70 and > 70 years. The control group included 100 elderly subjects who didn't have PAD which were divided also into 2 groups according to age . Both groups have CAD and underwent coronary angiography (CA showing significant CAD lesions. Echocardiography were done to all patients showing cardiac function. Results: EF was lowest in cases > 70 years (46.84 ± 9.82 and was highest in controls > 70 years (53.02 ± 5.53 which is statistically significant (P- Value 0.009. Also EF is correlated with ABI. Conclusion: There is a significant positive relationship between ABI and EF.

  1. Severe Periodontal Disease Manifested in Chronic Disseminated Type of Langerhans Cell Histiocytosis in a 3-Year Old Child

    Science.gov (United States)

    Srivastava, Vinay Kumar; Bansal, Rajesh; Gupta, Vineeta; Bansal, Manish; Patne, Shashikant

    2014-01-01

    ABSTRACT% Langerhans cell histiocytosis (LCH), previously known as histio-cytosis X, is a rare idiopathic disorder of reticulo-endothelial system with abnormal proliferation of bone marrow derived Langerhans cells along with a variable number of leukocytes, such as eosinophils, neutrophils, lymphocytes and plasma cells. Three years old male child presented with multifocal osteolytic lesions and papulosquamous skin lesions. Clinical and radio-graphic features, such as severe alveolar bone loss, mobility of teeth, precocious eruption of teeth, foating appearance of teeth in orthopantomogram (OPG), osteolytic lesion in skull and cutaneous lesions were highly suggestive of LCH disease. Skin biopsy confirmed a diagnosis of LCH. Induction chemotherapy with oral prednisolone and intravenous vinblastine was started. Child responded well to chemotherapy. The clinical significance of the presented case is to diagnose the case of LCH on the basis of the manifestation of severe periodontal disease as this can be first or only manifestation of LCH. A dentist plays a major role in the multidisciplinary treatment of LCH through routine examination and periodic follow-up. How to cite this article: Bansal M, Srivastava VK, Bansal R, Gupta V, Bansal M, Patne S. Severe Periodontal Disease Manifested in Chronic Disseminated Type of Langerhans Cell Histiocytosis in a 3-Year Old Child. Int J Clin Pediatr Dent 2014;7(3):217-219. PMID:25709306

  2. Cardiac biomarkers in the diagnosis, prognosis and management of coronary artery disease: A primer for internists

    Directory of Open Access Journals (Sweden)

    Vineet Chopra

    2010-01-01

    Full Text Available Initially coined in 1989, biomarkers have become a cornerstone of modern cardiovascular medicine. The past decade has borne witness to the rapid transition of cardiac biomarkers from bench to bedside in the management of patients with coronary artery disease. The implementation of cardiac biomarkers has transformed the internists′ approach to cardiovascular patients. This article reviews several cardiac biomarkers in the context of diagnosis, prognosis, risk-assessment and management of patients at risk of adverse cardiovascular outcomes. Biomarkers are presented according to their relevant role in the atherosclerotic cascade, a pathologic classification of particular value for internists, as it defines the role of these agents in the pathogenesis of heart disease. Where pertinent, limitations of cardiac biomarkers are discussed, thus allowing the discerning practitioner to remain cognizant of situations that may lead to spurious marker elevation or suppression. The review concludes with highlights on novel avenues of biomarker research that promise an exciting future for these entities.

  3. Post-epidemic Chikungunya disease on Reunion Island: course of rheumatic manifestations and associated factors over a 15-month period.

    Directory of Open Access Journals (Sweden)

    Daouda Sissoko

    Full Text Available Although the acute manifestations of Chikungunya virus (CHIKV illness are well-documented, few data exist about the long-term rheumatic outcomes of CHIKV-infected patients. We undertook between June and September 2006 a retrospective cohort study aimed at assessing the course of late rheumatic manifestations and investigating potential risk factors associated with the persistence of these rheumatic manifestations over 15 months. 147 participants (>16 yrs with laboratory-confirmed CHIKV disease diagnosed between March 1 and June 30, 2005, were identified through a surveillance database and interviewed by telephone. At the 15-month-period evaluation after diagnosis, 84 of 147 participants (57% self-reported rheumatic symptoms. Of these 84 patients, 53 (63% reported permanent trouble while 31 (37% had recurrent symptoms. Age > or=45 years (OR = 3.9, 95% CI 1.7-9.7, severe initial joint pain (OR = 4.8, 95% CI 1.9-12.1, and presence of underlying osteoarthritis comorbidity (OR = 2.9, 95% CI 1.1-7.4 were predictors of nonrecovery. Our findings suggest that long-term CHIKV rheumatic manifestations seem to be a frequent underlying post-epidemic condition. Three independent risk factors that may aid in early recognition of patients with the highest risk of presenting prolonged CHIKV illness were identified. Such findings may be particularly useful in the development of future prevention and care strategies for this emerging virus infection.

  4. Characterisation of an atypical manifestation of black band disease on Porites lutea in the Western Indian Ocean

    Science.gov (United States)

    Wilkinson, David A.; Schleyer, Michael H.; Chabanet, Pascale; Quod, Jean-Pascal; Tortosa, Pablo

    2016-01-01

    Recent surveys conducted on Reunion Island coral reefs revealed an atypical manifestation of black band disease on the main framework building coral, Porites lutea. This BBD manifestation (PorBBD) presented a thick lighter-colored band, which preceded the typical BBD lesion. Whilst BBD aetiology has been intensively described worldwide, it remains unclear if corals with apparently similar lesions across coral reefs are affected by the same pathogens. Therefore, a multidisciplinary approach involving field surveys, gross lesion monitoring, histopathology and 454-pyrosequencing was employed to provide the first comprehensive characterization of this particular manifestation. Surveys conducted within two geomorphological zones over two consecutive summers and winters showed spatial and seasonal patterns consistent with those found for typical BBD. Genetic analyses suggested an uncharacteristically high level of Vibrio spp. bacterial infection within PorBBD. However, microscopic analysis revealed high densities of cyanobacteria, penetrating the compromised tissue as well as the presence of basophilic bodies resembling bacterial aggregates in the living tissue, adjacent to the bacterial mat. Additionally, classical BBD-associated cyanobacterial strains, genetically related to Pseudoscillatoria coralii and Roseofilum reptotaenium were identified and isolated and the presence of sulfate-reducers or sulfide-oxidizers such as Desulfovibrio and Arcobacter, previously shown to be associated with anoxic microenvironment within typical BBD was also observed, confirming that PorBBD is a manifestation of classical BBD. PMID:27441106

  5. Characterisation of an atypical manifestation of black band disease on Porites lutea in the Western Indian Ocean

    Directory of Open Access Journals (Sweden)

    Mathieu Séré

    2016-07-01

    Full Text Available Recent surveys conducted on Reunion Island coral reefs revealed an atypical manifestation of black band disease on the main framework building coral, Porites lutea. This BBD manifestation (PorBBD presented a thick lighter-colored band, which preceded the typical BBD lesion. Whilst BBD aetiology has been intensively described worldwide, it remains unclear if corals with apparently similar lesions across coral reefs are affected by the same pathogens. Therefore, a multidisciplinary approach involving field surveys, gross lesion monitoring, histopathology and 454-pyrosequencing was employed to provide the first comprehensive characterization of this particular manifestation. Surveys conducted within two geomorphological zones over two consecutive summers and winters showed spatial and seasonal patterns consistent with those found for typical BBD. Genetic analyses suggested an uncharacteristically high level of Vibrio spp. bacterial infection within PorBBD. However, microscopic analysis revealed high densities of cyanobacteria, penetrating the compromised tissue as well as the presence of basophilic bodies resembling bacterial aggregates in the living tissue, adjacent to the bacterial mat. Additionally, classical BBD-associated cyanobacterial strains, genetically related to Pseudoscillatoria coralii and Roseofilum reptotaenium were identified and isolated and the presence of sulfate-reducers or sulfide-oxidizers such as Desulfovibrio and Arcobacter, previously shown to be associated with anoxic microenvironment within typical BBD was also observed, confirming that PorBBD is a manifestation of classical BBD.

  6. Inherited Cardiac Diseases Caused by Mutations in the Nav1.5 Sodium Channel

    DEFF Research Database (Denmark)

    Tfelt-Hansen, Jacob; Winkel, Bo Gregers; Grunnet, Morten

    2009-01-01

    Cardiac Diseases Caused by SCN5A Mutations. A prerequisite for a normal cardiac function is a proper generation and propagation of electrical impulses. Contraction of the heart is obtained through a delicate matched transmission of the electrical impulses. A pivotal element of the impulse propaga......-QT syndrome, Brugada syndrome, and AF, reported to be associated with mutations in SCN5A, are thoroughly described. (J Cardiovasc Electrophysiol, Vol. pp. 1-9)....

  7. Is age-related macular degeneration a manifestation of systemic disease? New prospects for early intervention and treatment.

    Science.gov (United States)

    Cheung, C M G; Wong, T Y

    2014-08-01

    Age-related macular degeneration (AMD) is a common vision-threatening condition affecting the elderly. AMD shares common risk factors and processes, including vascular and inflammatory pathways, with many systemic disorders. Associations have been reported between AMD and hypertension, cardiovascular disease, cerebrovascular disease, dyslipidaemia, chronic kidney disease and neurodegenerative disorders. An increasing amount of evidence suggests that individuals with AMD are also at risk of systemic diseases such as stroke. In this review, we summarize the latest evidence to support the notion that AMD is an ocular manifestation of systemic disease processes, and discuss the potential systemic side effects of ocular AMD therapy of which general physicians should be aware. Recent genetic discoveries and understanding of the pathogenic pathways in AMD in relation to systemic disorders are also highlighted.

  8. In Vivo Tracking of Cell Therapies for Cardiac Diseases with Nuclear Medicine

    Science.gov (United States)

    Moreira, Mayra Lorena; da Costa Medeiros, Priscylla; de Souza, Sergio Augusto Lopes; Rosado-de-Castro, Paulo Henrique

    2016-01-01

    Even though heart diseases are amongst the main causes of mortality and morbidity in the world, existing treatments are limited in restoring cardiac lesions. Cell transplantations, originally developed for the treatment of hematologic ailments, are presently being explored in preclinical and clinical trials for cardiac diseases. Nonetheless, little is known about the possible efficacy and mechanisms for these therapies and they are the center of continuous investigation. In this scenario, noninvasive imaging techniques lead to greater comprehension of cell therapies. Radiopharmaceutical cell labeling, firstly developed to track leukocytes, has been used successfully to evaluate the migration of cell therapies for myocardial diseases. A substantial rise in the amount of reports employing this methodology has taken place in the previous years. We will review the diverse radiopharmaceuticals, imaging modalities, and results of experimental and clinical studies published until now. Also, we report on current limitations and potential advances of radiopharmaceutical labeling for cell therapies in cardiac diseases. PMID:26880951

  9. Role for the Unfolded Protein Response in Heart Disease and Cardiac Arrhythmias.

    Science.gov (United States)

    Liu, Man; Dudley, Samuel C

    2015-12-31

    The unfolded protein response (UPR) has been extensively investigated in neurological diseases and diabetes, while its function in heart disease is less well understood. Activated UPR participates in multiple cardiac conditions and can either protect or impair heart function. Recently, the UPR has been found to play a role in arrhythmogenesis during human heart failure by affecting cardiac ion channels expression, and blocking UPR has an antiarrhythmic effect. This review will discuss the rationale for and challenges to targeting UPR in heart disease for treatment of arrhythmias.

  10. Pluripotent Stem Cell-Based Platforms in Cardiac Disease Modeling and Drug Testing.

    Science.gov (United States)

    Shaheen, N; Shiti, A; Gepstein, L

    2017-08-01

    The ability to generate patient/disease-specific human pluripotent stem cell (hPSC)-derived cardiomyocytes (hPSC-CMs) brings a unique value to the fields of cardiac disease modeling, drug testing, drug discovery, and precision medicine. Further integration of emerging innovative technologies such as developmental-biology inspired differentiation into chamber-specific cardiomyocyte subtypes, genome-editing, tissue-engineering, and novel functional phenotyping methodologies should facilitate even more advanced investigations. Here, we review cornerstone concepts and recent highlights of hPSC-based cardiac disease modeling and drug testing. © 2017 American Society for Clinical Pharmacology and Therapeutics.

  11. Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database.

    Science.gov (United States)

    Hanisch, M; Hanisch, L; Benz, K; Kleinheinz, J; Jackowski, J

    2017-02-23

    The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM(®) (Online Mendelian Inheritance in Man(®)), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined. The database provides a platform for general clinicians, orthodontists, and oral and maxillofacial surgeons to work on the best treatments.

  12. [Epicardial adipose tissue and its role in cardiac physiology and disease].

    Science.gov (United States)

    Toczyłowski, Kacper; Gruca, Michał; Baranowski, Marcin

    2013-06-20

    Adipose tissue secretes a number of cytokines, referred to as adipokines. Intensive studies conducted over the last two decades showed that adipokines exert broad effects on cardiac metabolism and function. In addition, the available data strongly suggests that these cytokines play an important role in development of cardiovascular diseases. Epicardial adipose tissue (EAT) has special properties that distinguish it from other deposits of visceral fat. Overall, there appears to be a close functional and anatomic relationship between the EAT and the cardiac muscle. They share the same coronary blood supply, and there is no structure separating the adipose tissue from the myocardium or coronary arteries. The role of EAT in osierdziocardiac physiology remains unclear. Its putative functions include buffering coronary arteries against the torsion induced by the arterial pulse wave and cardiac contraction, regulating fatty acid homeostasis in the coronary microcirculation, thermogenesis, and neuroprotection of the cardiac autonomic ganglia and nerves. Obesity (particularly the abdominal phenotype) leads to elevated EAT content, and the available data suggests that high amount of this fat depot is associated with increased risk of ischemic heart disease, cardiac hypertrophy and diastolic dysfunction. The mass of EAT is small compared to other fat deposits in the body. Nevertheless, its close anatomic relationship to the heart suggests that this organ is highly exposed to EAT-derived adipokines which makes this tissue a very promising area of research. In this paper we review the current knowledge on the role of EAT in cardiac physiology and development of heart disease.

  13. Metabolic and non-cognitive manifestations of Alzheimer’s disease: the hypothalamus as both culprit and target of pathology

    Science.gov (United States)

    Ishii, Makoto; Iadecola, Costantino

    2015-01-01

    Alzheimer’s disease (AD) is increasingly recognized as a complex neurodegenerative disease beginning decades prior to the cognitive decline. While cognitive deficits remain the cardinal manifestation of AD, metabolic and non-cognitive abnormalities, such as alterations in body weight and neuroendocrine functions are also present, often preceding the cognitive decline. Furthermore, hypothalamic dysfunction can also be a driver of AD pathology. Here we offer a brief appraisal of hypothalamic dysfunction in AD, and provide insight into an underappreciated dual role of the hypothalamus as both a culprit and target of AD pathology, as well as into new opportunities for therapeutic interventions and biomarker development. PMID:26365177

  14. Psychiatric manifestations of autoimmune diseases – diagnostic and therapeutic problems [Zaburzenia psychiczne w chorobach autoimmunologicznych – problemy diagnostyczno-terapeutyczne

    Directory of Open Access Journals (Sweden)

    Celińska-Löwenhoff, Magdalena

    2012-12-01

    Full Text Available In autoimmune diseases, also called connective tissue diseases, many systems and organs are involved, including the central, peripheral and autonomic nervous system. The frequency of neurological and neuropsychiatric manifestations varies in certain autoimmune diseases. One of the most common causes of these symptoms are vascular pathologies, including inflammatory and thrombotic, immunologic and atherosclerotic changes. Neuropsychiatric complications may present as a single symptom or might form a syndrome. In a particular patient, a syndrome might change its form in time, presenting itself as a different syndrome. Quite a lot of these symptoms are not a result of a disease itself but its treatment, metabolic abnormalities, arterial hypertension or infection. Steroids play a particular role in the induction of these complications.The role of increasingly used biological agents is uncertain. The most frequent psychiatric manifestations of the connective tissue diseases are: benign behavioural changes, emotional instability and sleep impairment. Neuropsychiatric symptoms are most frequently seen in systemic lupus erythematosus (up to 80% of these patients, particularly with the co-existent antiphospholipidsyndrome. Psychoses with or without seizures are included in the diagnostic criteria of the disease. A separate clinical problem is an induction of a synthesis of autoantiobodies by some drugs, including psychiatric drugs. These antibodies induce clinical symptoms of an autoimmune disease only in some patients, most frequently the symptoms of lupus erythematous, co called: drug induced lupus, including arthralgia, myalgia, fever, skin lesions and serositis. The diagnosis and treatment of psychiatric complications of autoimmune diseases is quite complicated. It is extremely important to distinguish whether a particular symptom is primary to the disease itself or secondary to its treatment. The most important recommendations are treatment of the

  15. Molecular mechanisms of cardiac electromechanical remodeling during Chagas disease: Role of TNF and TGF-β.

    Science.gov (United States)

    Cruz, Jader Santos; Machado, Fabiana Simão; Ropert, Catherine; Roman-Campos, Danilo

    2017-02-01

    Chagas disease is caused by the trypanosomatid Trypanosoma cruzi, which chronically causes heart problems in up to 30% of infected patients. Chagas disease was initially restricted to Latin America. However, due to migratory events, this disease may become a serious worldwide health problem. During Chagas disease, many patients die of cardiac arrhythmia despite the apparent benefits of anti-arrhythmic therapy (e.g., amiodarone). Here, we assimilate the cardiac form of Chagas disease to an inflammatory cardiac disease. Evidence from the literature, mostly provided using experimental models, supports this view and argues in favor of new strategies for treating cardiac arrhythmias in Chagas disease by modulating cytokine production and/or action. But the complex nature of myocardial inflammation underlies the need to better understand the molecular mechanisms of the inflammatory response during Chagas disease. Here, particular attention has been paid to tumor necrosis factor alpha (TNF) and transforming growth factor beta (TGF-β) although other cytokines may be involved in the chagasic cardiomyopathy. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Study of pregnancy outcome in women with cardiac disease: a retrospective analysis

    Directory of Open Access Journals (Sweden)

    Kiran Pandey

    2016-10-01

    Conclusions: Heart disease in pregnancy is a high risk condition and has a major impact on pregnancy outcome. Rheumatic heart disease being the prominent cardiac lesion. Fetomaternal mortality and morbidity can be reduced with proper antenatal, intrapartum and postnatal care in conjunction with cardiologist and neonatologist. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3537-3541

  17. Cost-effectiveness of new cardiac and vascular rehabilitation strategies for patients with coronary artery disease

    NARCIS (Netherlands)

    S. Spronk (Sandra); J.L.H.R. Bosch (Ruud); C. Ryjewski (Connie); J. Rosenblum (Judy); G.C. Kaandorp (Guido); J.V. White (John); M.G.M. Hunink (Myriam)

    2008-01-01

    textabstractObjective: Peripheral arterial disease (PAD) often hinders the cardiac rehabilitation program. The aim of this study was evaluating the relative cost-effectiveness of new rehabilitation strategies which include the diagnosis and treatment of PAD in patients with coronary artery disease (

  18. Cardiac Repolarization Abnormalities and Potential Evidence for Loss of Cardiac Sodium Currents on ECGs of Patients with Chagas' Heart Disease

    Science.gov (United States)

    Schlegel, T. T.; Medina, R.; Jugo, D.; Nunez, T. J.; Borrego, A.; Arellano, E.; Arenare, B.; DePalma, J. L.; Greco, E. C.; Starc, V.

    2007-01-01

    Some individuals with Chagas disease develop right precordial lead ST segment elevation in response to an ajmaline challenge test, and the prevalence of right bundle branch block (RBBB) is also high in Chagas disease. Because these same electrocardiographic abnormalities occur in the Brugada syndrome, which involves genetically defective cardiac sodium channels, acquired damage to cardiac sodium channels may also occur in Chagas disease. We studied several conventional and advanced resting 12-lead/derived Frank-lead ECG parameters in 34 patients with Chagas -related heart disease (mean age 39 14 years) and in 34 age-/gender-matched healthy controls. All ECG recordings were of 5-10 min duration, obtained in the supine position using high fidelity hardware/software (CardioSoft, Houston, TX). Even after excluding those Chagas patients who had resting BBBs, tachycardia and/or pathologic arrhythmia (n=8), significant differences remained in multiple conventional and advanced ECG parameters between the Chagas and control groups (n=26/group), especially in their respective QT interval variability indices, maximal spatial QRS-T angles and low frequency HRV powers (p=0.0006, p=0.0015 and p=0.0314 respectively). In relation to the issue of potential damage to cardiac sodium channels, the Chagas patients had: 1) greater than or equal to twice the incidence of resting ST segment elevation in leads V1-V3 (n=10/26 vs. n=5/26) and of both leftward (n=5/26 versus n=0/26) and rightward (n=7/26 versus n=3/26) QRS axis deviation than controls; 2) significantly increased filtered (40-250 Hz) QRS interval durations (92.1 8.5 versus 85.3 plus or minus 9.0 ms, p=0.022) versus controls; and 3) significantly decreased QT and especially JT interval durations versus controls (QT interval: 387.5 plus or minus 26.4 versus 408.9 plus or minus 34.6 ms, p=0.013; JT interval: 290.5 plus or minus 26.3 versus 314.8 plus or minus 31.3 ms; p=0.0029). Heart rates and Bazett-corrected QTc/JTc intervals

  19. Genetic Susceptibility to Cardiac and Digestive Clinical Forms of Chronic Chagas Disease: Involvement of the CCR5 59029 A/G Polymorphism.

    Science.gov (United States)

    de Oliveira, Amanda Priscila; Bernardo, Cássia Rubia; Camargo, Ana Vitória da Silveira; Ronchi, Luiz Sérgio; Borim, Aldenis Albaneze; de Mattos, Cinara Cássia Brandão; de Campos Júnior, Eumildo; Castiglioni, Lílian; Netinho, João Gomes; Cavasini, Carlos Eugênio; Bestetti, Reinaldo Bulgarelli; de Mattos, Luiz Carlos

    2015-01-01

    The clinical manifestations of chronic Chagas disease include the cardiac form of the disease and the digestive form. Not all the factors that act in the variable clinical course of this disease are known. This study investigated whether the CCR5Δ32 (rs333) and CCR5 59029 A/G (promoter region--rs1799987) polymorphisms of the CCR5 gene are associated with different clinical forms of chronic Chagas disease and with the severity of left ventricular systolic dysfunction in patients with chronic Chagas heart disease (CCHD). The antibodies anti-T. cruzi were identified by ELISA. PCR and PCR-RFLP were used to identify the CCR5Δ32 and CCR5 59029 A/G polymorphisms. The chi-square test was used to compare variables between groups. There was a higher frequency of the AA genotype in patients with CCHD compared with patients with the digestive form of the disease and the control group. The results also showed a high frequency of the AG genotype in patients with the digestive form of the disease compared to the other groups. The results of this study show that the CCR5Δ32 polymorphism does not seem to influence the different clinical manifestations of Chagas disease but there is involvement of the CCR5 59029 A/G polymorphism in susceptibility to the different forms of chronic Chagas disease. Besides, these polymorphisms do not influence left ventricular systolic dysfunction in patients with CCHD.

  20. Genetic Susceptibility to Cardiac and Digestive Clinical Forms of Chronic Chagas Disease: Involvement of the CCR5 59029 A/G Polymorphism.

    Directory of Open Access Journals (Sweden)

    Amanda Priscila de Oliveira

    Full Text Available The clinical manifestations of chronic Chagas disease include the cardiac form of the disease and the digestive form. Not all the factors that act in the variable clinical course of this disease are known. This study investigated whether the CCR5Δ32 (rs333 and CCR5 59029 A/G (promoter region--rs1799987 polymorphisms of the CCR5 gene are associated with different clinical forms of chronic Chagas disease and with the severity of left ventricular systolic dysfunction in patients with chronic Chagas heart disease (CCHD. The antibodies anti-T. cruzi were identified by ELISA. PCR and PCR-RFLP were used to identify the CCR5Δ32 and CCR5 59029 A/G polymorphisms. The chi-square test was used to compare variables between groups. There was a higher frequency of the AA genotype in patients with CCHD compared with patients with the digestive form of the disease and the control group. The results also showed a high frequency of the AG genotype in patients with the digestive form of the disease compared to the other groups. The results of this study show that the CCR5Δ32 polymorphism does not seem to influence the different clinical manifestations of Chagas disease but there is involvement of the CCR5 59029 A/G polymorphism in susceptibility to the different forms of chronic Chagas disease. Besides, these polymorphisms do not influence left ventricular systolic dysfunction in patients with CCHD.

  1. Functional Relevance of Coronary Artery Disease by Cardiac Magnetic Resonance and Cardiac Computed Tomography: Myocardial Perfusion and Fractional Flow Reserve

    Directory of Open Access Journals (Sweden)

    Gianluca Pontone

    2015-01-01

    Full Text Available Coronary artery disease (CAD is one of the leading causes of morbidity and mortality and it is responsible for an increasing resource burden. The identification of patients at high risk for adverse events is crucial to select those who will receive the greatest benefit from revascularization. To this aim, several non-invasive functional imaging modalities are usually used as gatekeeper to invasive coronary angiography, but the diagnostic yield of elective invasive coronary angiography remains unfortunately low. Stress myocardial perfusion imaging by cardiac magnetic resonance (stress-CMR has emerged as an accurate technique for diagnosis and prognostic stratification of the patients with known or suspected CAD thanks to high spatial and temporal resolution, absence of ionizing radiation, and the multiparametric value including the assessment of cardiac anatomy, function, and viability. On the other side, cardiac computed tomography (CCT has emerged as unique technique providing coronary arteries anatomy and more recently, due to the introduction of stress-CCT and noninvasive fractional flow reserve (FFR-CT, functional relevance of CAD in a single shot scan. The current review evaluates the technical aspects and clinical experience of stress-CMR and CCT in the evaluation of functional relevance of CAD discussing the strength and weakness of each approach.

  2. Functional Relevance of Coronary Artery Disease by Cardiac Magnetic Resonance and Cardiac Computed Tomography: Myocardial Perfusion and Fractional Flow Reserve

    Science.gov (United States)

    Andreini, Daniele; Bertella, Erika; Mushtaq, Saima; Guaricci, Andrea Igoren; Pepi, Mauro

    2015-01-01

    Coronary artery disease (CAD) is one of the leading causes of morbidity and mortality and it is responsible for an increasing resource burden. The identification of patients at high risk for adverse events is crucial to select those who will receive the greatest benefit from revascularization. To this aim, several non-invasive functional imaging modalities are usually used as gatekeeper to invasive coronary angiography, but the diagnostic yield of elective invasive coronary angiography remains unfortunately low. Stress myocardial perfusion imaging by cardiac magnetic resonance (stress-CMR) has emerged as an accurate technique for diagnosis and prognostic stratification of the patients with known or suspected CAD thanks to high spatial and temporal resolution, absence of ionizing radiation, and the multiparametric value including the assessment of cardiac anatomy, function, and viability. On the other side, cardiac computed tomography (CCT) has emerged as unique technique providing coronary arteries anatomy and more recently, due to the introduction of stress-CCT and noninvasive fractional flow reserve (FFR-CT), functional relevance of CAD in a single shot scan. The current review evaluates the technical aspects and clinical experience of stress-CMR and CCT in the evaluation of functional relevance of CAD discussing the strength and weakness of each approach. PMID:25692133

  3. Extraesophageal manifestations of gastroesophageal reflux disease: cough, asthma, laryngitis, chest pain.

    Science.gov (United States)

    Saritas Yuksel, Elif; Vaezi, Michael F

    2012-01-01

    GER is a common condition affecting many patients in different parts of the world. It usually presents with the classic manifestations of heartburn and regurgitation; however, in some it can also present with extraesophageal manifestations such as chronic cough, laryngitis, asthma or chest pain. Commonly employed diagnostic tests such as EGD and ambulatory pH or impedance monitoring in GER, are less useful in extraesophageal syndromes due to their poor sensitivity and specificity. In contrast, empiric trials of PPI's are shown to be cost effective; however, patients may require long-term treatment to establish effectiveness. Diagnostic testing with pH and impedance monitoring are commonly reserved for patients with partial or poor response to the initial treatment with PPI's. Poor response to PPI therapy may be an important indicator for non-GER causes for patients' symptoms and should initiate a search for other potential causes.

  4. [Nosology of inflammatory diseases: lessons learned from the auto-inflammatory syndromes--a focus on skin manifestations].

    Science.gov (United States)

    Lipsker, Dan; Ramot, Yuval; Ingber, Arieh

    2012-10-01

    Auto-inflammatory diseases were first described more than 10 years ago as inherited disorders, characterized by recurrent flares of inflammation due to an abnormality in the innate immune system. The understanding of the underlying pathogenic mechanisms of these disorders, and especially the fact that they are mediated by IL-1 secretion by stimulated monocytes/macrophages, facilitated significant progress in patient management. IL-1 inhibitors are especially effective, and indeed, a brief and complete response to IL-1 inhibition is probably one of the best signs of auto-inflammation. Cutaneous manifestations are frequent in the monogenic auto-inflammatory syndromes, and a careful analysis of those findings reveals that they are almost always the consequence of neutrophilic skin infiltration. The neutrophilic dermatoses are, therefore, the cutaneous manifestations of those disorders. Even when the neutrophilic dermatoses occur outside the setting of genetically determined auto-inflammatory disorders, they probably also result from auto-inflammatory mechanisms. The distinction between auto-inflammation and autoimmunity is essential for the proper treatment of the patients. Auto-inflammation will almost always respond to IL-1 inhibition, while immunospressors will not be beneficial. The aim of the current paper is to review these two sub-groups of inflammatory diseases, focusing on their cutaneous manifestations, and highlighting the connection between these syndromes and inflammation in general.

  5. Correlation between Ocular Manifestations and Their Complications as Opposed to Visual Acuity and Treatment in Behcet's Disease

    Directory of Open Access Journals (Sweden)

    Jelena Paovic

    2013-01-01

    Full Text Available The aim of this study was to analyze ocular manifestations, their complications, and treatment in a sample of 40 patients with confirmed Behcet’s disease. Results. Serofibrinous iridocyclitis was the most common form of uveitis (60%. Retinal periphlebitis manifested in 92.5% of cases, and periphlebitis in conjunction with periarteritis was diagnosed in 72.5% of cases. Macular edema was the most frequent complication on the posterior segment (60% and it correlated with periphlebitis (P=0.45 and periphlebitis associated with periarteritis (P=0.51. Cyclosporine A and corticosteroids were used in the majority of cases (67%. Following six months of therapy, a significant improvement of visual acuity occurred in patients with initial visual acuity >0.5 on both eyes. Level of visual acuity before and after treatment had a strong significant correlation coefficient with various ocular complications. Previously proven significant increase of visual acuity in patients with macular edema depicts effectiveness of treatment in these types of ocular manifestations of Behcet’s disease. Conclusions. Significant improvement of visual acuity occurred in patients with initial visual acuity >0.5 on both eyes. The highest increase in visual acuity was achieved by laser photocoagulation in combination with triamcinolone acetonide P=0.038<0.050.

  6. Neurological diseases of ruminant livestock in Australia. I: general neurological examination, necropsy procedures and neurological manifestations of systemic disease, trauma and neoplasia.

    Science.gov (United States)

    Finnie, J W; Windsor, P A; Kessell, A E

    2011-07-01

    Disease surveillance is an integral part of most veterinary practices in Australia. The aim of this series of invited reviews is to facilitate the differential and ultimately definitive diagnosis of some of the previously known, as well as the novel and emerging, neurological disorders of ruminant livestock, which is of particular importance in the surveillance for transmissible spongiform encephalopathies. General principles of a systematic neurological examination, necropsy procedures and the neurological manifestations of systemic disease, trauma and neoplasia are described here.

  7. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... patient symptoms and manifestations. Thus, it is interesting that mouse models targeting a specific -isoform cause different, although still comparable, phenotypes consistent with classical symptoms and other manifestations observed in FHM2 and RDP patients. This review highlights that use of mouse models...

  8. Symptomatic radiation-induced cardiac disease in long-term survivors of esophageal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Iwahashi, Noriaki; Kosuge, Masami; Kimura, Kazuo [Division of Cardiology, Yokohama City University Medical Center, Yokohama (Japan); Sakamaki, Kentaro [Department of Biostatistics, Yokohama City University Medical Center, Yokohama (Japan); Kunisaki, Chikara [Department of Surgery, Gastroenterological Center, Yokohama City University Medical Center, Yokohama (Japan); Ogino, Ichiro; Watanabe, Shigenobu

    2016-06-15

    To evaluate clinical and dosimetric factors retrospectively affecting the risk of symptomatic cardiac disease (SCD) in esophageal cancer patients treated with radiotherapy. A total of 343 patients with newly diagnosed esophageal cancer were managed with concurrent chemoradiotherapy or radiotherapy alone. Of these, 58 patients were followed at our hospital for at least 4 years. Median clinical follow-up was 79 months. Cardiac toxicity was determined by Common Terminology Criteria for Adverse Events (CTCAE) v. 4.0. The maximum and mean doses to the heart and percentage of the volume were calculated from the dose-volume histograms. SCD manifested in 11 patients. The heart diseases included three pericardial effusions, one pericardial effusion with valvular disease and paroxysmal atrial tachycardia, three atrial fibrillations, one sinus tachycardia, one coronary artery disease, one chest pain with strongly suspected coronary artery disease, and one congestive heart failure. The actual incidence of SCD was 13.8 % at 5 years. Univariate and multivariate analyses of continuous variables revealed that the risk of developing an SCD depended on the volume of the heart receiving a dose greater than 45 Gy (V45), 50 Gy (V50), and 55 Gy (V55). No other clinical factors were found to influence the risk of SCD. For V45, V50, and V55, the lowest significant cutoff values were 15, 10, and 5 %, respectively. High-dose and large-volume irradiation of the heart increased the risk of SCD in long-term survivors. Using modern radiotherapy techniques, it is important to minimize the heart dose-volume parameters without reducing the tumor dose. (orig.) [German] Beurteilung von klinischen und dosimetrischen Faktoren, die mit Risiken eines retrospektiven Auftretens von symptomatischen Herzerkrankungen (SCD) bei Patienten zusammenhaengen, die aufgrund eines Oesophaguskarzinoms strahlentherapeutisch behandelt wurden. Insgesamt 343 Patienten mit neu diagnostiziertem Oesophaguskarzinom wurden mit

  9. An apparent case of undiagnosed donor Kawasaki disease manifesting as coronary artery aneurysm in a pediatric heart transplant recipient.

    Science.gov (United States)

    Friedland-Little, Joshua; Aiyagari, Ranjit; Gajarski, Robert J; Schumacher, Kurt R

    2013-02-01

    We present a case of coronary ectasia and LAD coronary artery aneurysm with angiographic characteristics of Kawasaki disease in a three-yr-old girl two-yr status post-orthotopic heart transplant. Coronary anomalies were noted during initial screening coronary angiography two yr after transplant. Subsequent review of the donor echocardiogram revealed that the LMCA had been mildly dilated prior to transplant. In the absence of any symptoms consistent with Kawasaki disease in the transplant recipient, this appears to be a case of Kawasaki disease in the organ donor manifesting with coronary anomalies in the transplant recipient. The patient has done well clinically, and repeat coronary angiography has revealed partial regression of coronary anomalies. Given multiple reports in the literature of persistent abnormalities of coronary artery morphology and function after Kawasaki disease, close monitoring is warranted, with consideration of potential coronary protective medical therapies. © 2012 John Wiley & Sons A/S.

  10. [Adult-onset Still's disease with pulmonary and cardiac involvement and response to intravenous immunoglobulin].

    Science.gov (United States)

    Neto, Nilton Salles Rosa; Waldrich, Leandro; de Carvalho, Jozélio Freire; Pereira, Rosa Maria Rodrigues

    2009-01-01

    Cardiopulmonary manifestations of adult-onset Still's disease (AOSD) include pericarditis, pleural effusion, transient pulmonary infiltrates, pulmonary interstitial disease and myocarditis. Serositis are common but pneumonitis and myocarditis are not and bring elevated risk of mortality. They may manifest on disease onset or flares. Previously reported cases were treated with high-dose glucocorticoids and immunosupressants and, when refractory, intravenous immunoglobulin (IVIG). We report an AOSD patient whose flare presented with severe pleupneumonitis and myopericarditis and, following nonresponse to a methylprednisolone pulse, high dose of prednisone and cyclosporine A, recovered after a 2-day 1g/kg/day IVIG infusion.

  11. Expression of C-Reactive Protein and Serum Amyloid A in Early to Late Manifestations of Lyme Disease.

    Science.gov (United States)

    Uhde, Melanie; Ajamian, Mary; Li, Xueting; Wormser, Gary P; Marques, Adriana; Alaedini, Armin

    2016-12-01

     Infection with Borrelia burgdorferi, the causative agent of Lyme disease, triggers host immune responses that affect the clinical outcome and are a source of biomarkers with diagnostic utility. Although adaptive immunity to B. burgdorferi has been extensively characterized, considerably less information is available about the development of innate acute-phase responses in Lyme disease. Our aim in this study was to evaluate the expression of C-reactive protein (CRP) and serum amyloid A (SAA), the prototype acute-phase response proteins, in the context of the varying manifestations associated with Lyme borreliosis.  Circulating concentrations of CRP and SAA in patients with a range of early to late objective manifestations of Lyme disease and in individuals with post-treatment Lyme disease syndrome were compared with those in healthy control groups.  CRP and SAA levels were significantly elevated in early localized and early disseminated Lyme disease but not in the later stages of active infection. Levels of CRP, but not SAA, were also found to be significantly increased in patients with antibiotic-refractory Lyme arthritis and in those with post-treatment Lyme disease syndrome.  These findings indicate that circulating CRP and SAA levels are highest when the concentration of spirochetes is greatest in skin and/or blood and that levels decline after the dissemination of the organism to extracutaneous sites in subsequent stages of infection. The data also suggest that antibiotic-refractory Lyme arthritis and post-treatment Lyme disease syndrome are associated with elevated CRP responses that are driven by inflammatory mechanisms distinct from those in active infection. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  12. Anaesthetic considerations in children with congenital heart disease undergoing non-cardiac surgery

    Directory of Open Access Journals (Sweden)

    Jagdish Menghraj Shahani

    2012-01-01

    Full Text Available The objective of this article is to provide an updated and comprehensive review on current perioperative anaesthetic management of paediatric patients with congenital heart disease (CHD coming for non-cardiac surgery. Search of terms such as "anaesthetic management," "congenital heart disease" and "non-cardiac surgery" was carried out in KKH eLibrary, PubMed, Medline and Google, focussing on significant current randomised control trials, case reports, review articles and editorials. Issues on how to tailor perioperative anaesthetic management on cases with left to right shunt, right to left shunt and complex heart disease are discussed in this article. Furthermore, the author also highlights special considerations such as pulmonary hypertension, neonates with CHD coming for extracardiac surgery and the role of regional anaesthesia in children with CHD undergoing non-cardiac operation.

  13. Evaluation of platelet function in dogs with cardiac disease using the PFA-100 platelet function analyzer.

    Science.gov (United States)

    Clancey, Noel; Burton, Shelley; Horney, Barbara; Mackenzie, Allan; Nicastro, Andrea; Côté, Etienne

    2009-09-01

    Cardiac disease has the potential to alter platelet function in dogs. Evaluation of platelet function using the PFA-100 analyzer in dogs of multiple breeds and with a broad range of cardiac conditions would help clarify the effect of cardiac disease on platelets. The objective of this study was to assess differences in closure time (CT) in dogs with cardiac disease associated with murmurs, when compared with that of healthy dogs. Thirty-nine dogs with cardiac murmurs and turbulent blood flow as determined echocardiographically were included in the study. The dogs represented 23 different breeds. Dogs with murmurs were further divided into those with atrioventricular valvular insufficiency (n=23) and subaortic stenosis (n=9). Fifty-eight clinically healthy dogs were used as controls. CTs were determined in duplicate on a PFA-100 analyzer using collagen/ADP cartridges. Compared with CTs in the control group (mean+/-SD, 57.6+/-5.9 seconds; median, 56.5 seconds; reference interval, 48.0-77.0 seconds), dogs with valvular insufficiency (mean+/-SD, 81.9+/-26.3 seconds; median, 78.0 seconds; range, 52.5-187 seconds), subaortic stenosis (71.4+/-16.5 seconds; median, 66.0 seconds; range, 51.5-95.0 seconds), and all dogs with murmurs combined (79.6+/-24.1 seconds; median, 74.0 seconds; range, 48.0-187 seconds) had significantly prolonged CTs (P<.01). The PFA-100 analyzer is useful in detecting platelet function defects in dogs with cardiac murmurs, most notably those caused by mitral and/or tricuspid valvular insufficiency or subaortic stenosis. The form of turbulent blood flow does not appear to be an important factor in platelet hypofunction in these forms of cardiac disease.

  14. Oral Manifestations of Chronic Renal Failure Complicating a Systemic Genetic Disease: Diagnostic Dilemma. Case Report and Literature Review.

    Science.gov (United States)

    Benmoussa, Leila; Renoux, Marion; Radoï, Loredana

    2015-11-01

    Chronic renal failure can give rise to a wide spectrum of oral manifestations, owing mainly to secondary hyperparathyroidism complicating this disease. However, any systemic disease responsible for kidney failure can produce oral manifestations, which can be misdiagnosed. This report describes the case of a 40-year-old male patient referred for oral assessment before kidney and liver transplantation. He had primary hyperoxaluria complicated by end-stage renal failure and secondary hyperparathyroidism. Panoramic radiography indicated not only external root resorption, but also maxillary and mandibular radiolucencies consistent with brown tumors. Unexpectedly, histologic study of the bone biopsy specimen led to the diagnosis of jaws oxalosis. Primary hyperoxaluria is a systemic genetic disease. The affected genes are involved in glyoxylate metabolism and their deficiency results in overproduction of oxalates. Inability of the kidney to excrete oxalates leads to deposition of these crystals in almost all tissues (oxalosis) and to multiple-organ failure. Several oral findings have been described in patients with oxalosis, such as periodontal disease and root resorptions, but radiolucencies in the jaws have rarely been described. This case report is of particular interest because of the unusual location of oxalate crystal deposition in the jaws, which could be misdiagnosed in a patient with renal failure and secondary hyperparathyroidism.

  15. Current Roles and Future Applications of Cardiac CT: Risk Stratification of Coronary Artery Disease

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Yeonyee Elizabeth [Department of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital, Seongnam 463-707 (Korea, Republic of); Lim, Tae-Hwan [Department of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul 138-736 (Korea, Republic of)

    2014-07-01

    Cardiac computed tomography (CT) has emerged as a noninvasive modality for the assessment of coronary artery disease (CAD), and has been rapidly integrated into clinical cares. CT has changed the traditional risk stratification based on clinical risk to image-based identification of patient risk. Cardiac CT, including coronary artery calcium score and coronary CT angiography, can provide prognostic information and is expected to improve risk stratification of CAD. Currently used conventional cardiac CT, provides accurate anatomic information but not functional significance of CAD, and it may not be sufficient to guide treatments such as revascularization. Recently, myocardial CT perfusion imaging, intracoronary luminal attenuation gradient, and CT-derived computed fractional flow reserve were developed to combine anatomical and functional data. Although at present, the diagnostic and prognostic value of these novel technologies needs to be evaluated further, it is expected that all-in-one cardiac CT can guide treatment and improve patient outcomes in the near future.

  16. Cardiac diseases - their clinical features, diagnostic procedures and questions to the radiologist

    Energy Technology Data Exchange (ETDEWEB)

    Maisch, B.

    1983-09-01

    When diagnosing cardiac diseases non-invasively either by radiology, radionuclide studies or echocardiography each method has its values and problems. In coronary artery disease exercise stress testing with or without thallium-201 perfusion scintigraphy, the demonstration of coronary artery calcification and echocardiography are valuable non-invasive methods. Only by coronary arteriography, however, can the degree of stenosis, its localisation and its operability be determined. In heart muscle diseases X-ray and radionuclide angiocardiography demonstrate cardiac dilatation and diminished left ventricular function. In addition echocardiography is the method of choice to distinguish dilated from hypertrophic (obstructive or non obstructive) cardiomyopathy. Pericardial diseases are diagnosed most effectively by echocardiography and, more expensively, by computer tomography. In neoplastic pericardial effusions computer tomography assesses mediastinal tumors most effectively. In valvular heart disease the classical chest X-ray is still of great importance, but echocardiography is more specific and more sensitive. Invasive diagnostic measures (heart catherization) are still mandatory in most valvular diseases.

  17. Clinical and pathological manifestations of cardiovascular disease in rat models: the influence of acute ozone exposure

    Science.gov (United States)

    This paper shows that rat models of cardiovascular diseases have differential degrees of underlying pathologies at a young age. Rodent models of cardiovascular diseases (CVD) and metabolic disorders are used for examining susceptibility variations to environmental exposures. How...

  18. Extranodal manifestation of Rosai-Dorfman disease with bilateral ocular involvement

    Directory of Open Access Journals (Sweden)

    Chayanika Kala

    2011-01-01

    Full Text Available Rosai-Dorfman disease, that is, sinus histiocytosis with massive lymphadenopathy is a benign systemic proliferative disorder of histiocytes. The typical clinical presentation of the disease includes bilateral painless massive lymphadenopathy, fever and polyclonal hypergammaglobulinemia. Extranodal involvement is present in only a few cases and skin lesions are the most common form of extranodal disease. However, purely cutaneous Rosai-Dorfman disease is uncommon. In this study, we describe a 10-year-old child presenting with bilateral ocular involvement.

  19. 多发性大动脉炎合并心脏损害患者临床特点及危险因素分析%Manifestations and risk factors of cardiac involvement in patients with Takayasu's arteritis

    Institute of Scientific and Technical Information of China (English)

    万瑾; 潘丽丽; 慈维苹; 廖华; 王天

    2015-01-01

    尖瓣关闭不全(比值比=0.192,95%置信区间:0.040 ~ 0.929,P<0.05)和三尖瓣关闭不全(比值比=0.093,95%置信区间:0.011 ~ 0.761,P<0.05)的独立危险因素.结论 TA出现心脏损害并不少见,临床医师应关注其临床特征,早诊断早治疗,有助于减少TA患者心脏损害的发生.%Objective To explore manifestations and risk factors of cardiac involvement in patients with Takayasu's arteritis (TA).Methods Data of 55 TA patients complicated with cardiac injury among 85 TA patients,including clinical manifestations and results of physical,laboratory,imaging examination,were retrospectively analyzed.The cardiac injury was assessed by echocardiography and coronary CT angiography CT.Relative clinical data of TA patients complicated with cardiac injury were compared withTA patients without cardiac injury.Results In the 55 patients,47 were female and 8 were male.The time of confirmed diagnosis in TA patients with cardiac injury was significantly later [36 (9,168)months vs 12 (6,24) months],compared with that in TA patients without cardiac injury;meanwhile chest pain and blood pressure difference > 10 mmHg between right-to-left sides were more like to occur [27.3% (15/55) vs 6.7% (2/30),69.1% (38/55) vs 46.7% (14/30)] (P < 0.05).The proportions of patients with increased erythrocyte sedimentation rate and C reactive protein were not statistically different between TA patients with or without cardiac injury [63.6% (35/55) vs 56.7% (17/30),58.2% (32/55) vs 53.3% (16/30)] (P > 0.05).In TA patients with cardiac injury,there were 13 of type Ⅰ (23.6%),11 of type Ⅱ (20.0%),28 of type Ⅲ (50.9%),1 of type Ⅰ +Ⅳ (1.8%),2 of type Ⅲ+ Ⅳ (3.6%);30 patients (54.5%) had hypertensive heart disease,including 18 of renal arterial stenosis or occlusion the onset hypersension were of (28 ± 14) years,which was younger than those without renal arterial involvement [(44 ± 14) years] (P < 0.05);6 patients (10.9%) had old of age

  20. Manifestation of Chaos in Real Complex Systems: Case of Parkinson's Disease

    CERN Document Server

    Yulmetyev, R M; Hänggi, P; Yulmetyev, Renat M.; Demin, Sergey A.; H\\"{a}nggi, Peter

    2006-01-01

    In this chapter we present a new approach to the study of manifestations of chaos in real complex system. Recently we have achieved the following result. In real complex systems the informational measure of chaotic chatacter (IMC) can serve as a reliable quantitative estimation of the state of a complex system and help to estimate the deviation of this state from its normal condition. As the IMC we suggest the statistical spectrum of the non-Markovity parameter (NMP) and its frequency behavior. Our preliminary studies of real complex systems in cardiology, neurophysiology and seismology have shown that the NMP has diverse frequency dependence. It testifies to the competition between Markovian and non-Markovian, random and regular processes and makes a crossover from one relaxation scenario to the other possible. On this basis we can formulate the new concept in the study of the manifestation of chaoticity. We suggest the statistical theory of discrete non-Markov stochastic processes to calculate the NMP and t...

  1. Acute kidney injury after using contrast during cardiac catheterization in children with heart disease.

    Science.gov (United States)

    Hwang, Young Ju; Hyun, Myung Chul; Choi, Bong Seok; Chun, So Young; Cho, Min Hyun

    2014-08-01

    Acute kidney injury (AKI) is closely associated with the mortality of hospitalized patients and long-term development of chronic kidney disease, especially in children. The purpose of our study was to assess the evidence of contrast-induced AKI after cardiac catheterization in children with heart disease and evaluate the clinical usefulness of candidate biomarkers in AKI. A total of 26 children undergoing cardiac catheterization due to various heart diseases were selected and urine and blood samples were taken at 0 hr, 6 hr, 24 hr, and 48 hr after cardiac catheterization. Until 48 hr after cardiac catheterization, there was no significant increase in serum creatinine level in all patients. Unlike urine kidney injury molecule-1, IL-18 and neutrophil gelatinase-associated lipocalin, urine liver-type fatty acid-binding protein (L-FABP) level showed biphasic pattern and the significant difference in the levels of urine L-FABP between 24 and 48 hr. We suggest that urine L-FABP can be one of the useful biomarkers to detect subclinical AKI developed by the contrast before cardiac surgery.

  2. Reliability and agreement of adipose tissue fat fraction measurements with water-fat MRI in patients with manifest cardiovascular disease.

    Science.gov (United States)

    Franssens, Bas T; Eikendal, Anouk L; Leiner, Tim; van der Graaf, Yolanda; Visseren, Frank L J; Hoogduin, J M

    2016-01-01

    The supraclavicular fat depot is known for brown adipose tissue presence. To unravel adipose tissue physiology and metabolism, high quality and reproducible imaging is required. In this study we quantified the reliability and agreement of MRI fat fraction measurements in supraclavicular and subcutaneous adipose tissue of 25 adult patients with clinically manifest cardiovascular disease. MRI fat fraction measurements were made under ambient temperature conditions using a vendor supplied mDixon chemical-shift water-fat multi-echo pulse sequence at 1.5 T field strength. Supraclavicular fat fraction reliability (intraclass correlation coefficientagreement , ICCagreement ) was 0.97 for test-retest, 0.95 for intra-observer and 0.56 for inter-observer measurements, which increased to 0.88 when ICCconsistency was estimated. Supraclavicular fat fraction agreement displayed mean differences of 0.5% (limit of agreement (LoA) -1.7 to 2.6) for test-retest, -0.5% (LoA -2.9 to 2.0) for intra-observer and 5.6% (LoA 0.4 to 10.8) for inter-observer measurements. Median fat fraction in supraclavicular adipose tissue was 82.5% (interquartile range (IQR) 78.6-84.0) and 89.7% (IQR 87.2-91.5) in subcutaneous adipose tissue (p fat MRI has good reliability and agreement to measure adipose tissue fat fraction in patients with manifest cardiovascular disease. These findings enable research on determinants of fat fraction and enable longitudinal monitoring of fat fraction within adipose tissue depots. Interestingly, even in adult patients with manifest cardiovascular disease, supraclavicular adipose tissue has a lower fat fraction compared with subcutaneous adipose tissue, suggestive of distinct morphologic characteristics, such as brown adipose tissue.

  3. Assessing Impairment of Executive Function and Psychomotor Speed in Premanifest and Manifest Huntington's Disease Gene-expansion Carriers

    DEFF Research Database (Denmark)

    Unmack Larsen, Ida; Vinther-Jensen, Tua; Gade, Anders;

    2015-01-01

    Executive functions (EF) and psychomotor speed (PMS) has been widely studied in Huntington's disease (HD). Most studies have focused on finding markers of disease progression by comparing group means at different disease stages. Our aim was to investigate performances on nine measures of EF and PMS...... and as controls 39 healthy gene-expansion negative individuals. All participants underwent neurological examination and neuropsychological testing with nine cognitive measures. The frequency of impairment was investigated using cutoff scores. In group comparisons the manifest HD gene-expansion carriers scored...... significantly worse than controls on all tests and in classification of individual scores the majority of scores were classified as probably impaired (10th percentile) or impaired (5th percentile) with Symbol Digit Modalities Test (SDMT) being the most frequently impaired. Group comparisons of premanifest HD...

  4. Cardiac symptoms before sudden cardiac death caused by coronary artery disease

    DEFF Research Database (Denmark)

    Jabbari, Reza; Risgaard, Bjarke; Holst, Anders G;

    2013-01-01

    The aim of this nationwide case-control study was to identify and characterise symptoms before sudden death of young persons who had died due to coronary artery disease (CAD).......The aim of this nationwide case-control study was to identify and characterise symptoms before sudden death of young persons who had died due to coronary artery disease (CAD)....

  5. A multicentre study of 513 Danish patients with systemic lupus erythematosus. I. Disease manifestations and analyses of clinical subsets

    DEFF Research Database (Denmark)

    Jacobsen, Søren; Petersen, J; Ullman, S

    1998-01-01

    duration of follow-up was 8.2 years from diagnosis and 12.8 years from first symptom. This paper describes the most common clinical and laboratory manifestations and their relationship to sex and age at the time of onset and diagnosis. Cluster analysis revealed three clinically defined clusters at the time...... of disease onset. Cluster 1 (57% of patients) consisted of relatively elderly patients without nephropathy or malar rash, but with a high prevalence of discoid lesions. Cluster 2 (18%) consisted of patients with nephropathy, a third of whom also developed serositis and lymphopenia. The patients of the third...

  6. Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

    National Research Council Canada - National Science Library

    Suzuki, Akira; Nagasaka, Hironori; Ochi, Yasuhiro; Kobayashi, Kazuhiro; Nakamura, Hiroshi; Nakatani, Daisaku; Yamaguchi, Satoshi; Yamaki, Shinobu; Wada, Atsushi; Shirata, Yoshihisa; Hui, Shu-Ping; Toda, Tatsushi; Kuroda, Hiroshi; Chiba, Hitoshi; Hirano, Ken-ichi

    2014-01-01

    Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes...

  7. Hyperpolarized metabolic MR in the study of cardiac function and disease

    DEFF Research Database (Denmark)

    Lauritzen, M. H.; Søgaard, L. V.; Madsen, Pia Lisbeth;

    2014-01-01

    signal from a biological molecule of interest by more than 10,000 times, making it possible to measure its cellular uptake and conversion in specific enzymatic pathways in real time. We review the role of hyperpolarized MR in identifying changes in cardiac metabolism in vivo, and present the extensive...... literature on hyperpolarized pyruvate that has been used to characterize cardiac disease in various in vivo models, such as myocardial ischemia, hypertension, diabetes, hyperthyroidism and heart failure. The technical aspects of the technique are presented as well as the challenges of translating...... the technique into clinical practice. Hyperpolarized MR has the prospect of transforming diagnostic cardiology by offering new insights into cardiac disease and potentially even to contribute to personalized therapy based on a thorough understanding of the individual intracellular metabolism....

  8. Dysfunctional Hyperpolarization-Activated Cyclic Nucleotide-gated Ion Channels in Cardiac Diseases

    Directory of Open Access Journals (Sweden)

    Xiaoqi Zhao

    Full Text Available Abstract Hyperpolarization-activated cyclic nucleotide-gated (HCN channels are reverse voltage-dependent, and their activation depends on the hyperpolarization of the membrane and may be directly or indirectly regulated by the cyclic adenosine monophosphate (cAMP or other signal-transduction cascades. The distribution, quantity and activation states of HCN channels differ in tissues throughout the body. Evidence exhibits that HCN channels play critical roles in the generation and conduction of the electrical impulse and the physiopathological process of some cardiac diseases. They may constitute promising drug targets in the treatment of these cardiac diseases. Pharmacological treatment targeting HCN channels is of benefit to these cardiac conditions.

  9. Drosophila in the Heart of Understanding Cardiac Diseases: Modeling Channelopathies and Cardiomyopathies in the Fruitfly

    Directory of Open Access Journals (Sweden)

    Ouarda Taghli-Lamallem

    2016-02-01

    Full Text Available Cardiovascular diseases and, among them, channelopathies and cardiomyopathies are a major cause of death worldwide. The molecular and genetic defects underlying these cardiac disorders are complex, leading to a large range of structural and functional heart phenotypes. Identification of molecular and functional mechanisms disrupted by mutations causing channelopathies and cardiomyopathies is essential to understanding the link between an altered gene and clinical phenotype. The development of animal models has been proven to be efficient for functional studies in channelopathies and cardiomyopathies. In particular, the Drosophila model has been largely applied for deciphering the molecular and cellular pathways affected in these inherited cardiac disorders and for identifying their genetic modifiers. Here we review the utility and the main contributions of the fruitfly models for the better understanding of channelopathies and cardiomyopathies. We also discuss the investigated pathological mechanisms and the discoveries of evolutionarily conserved pathways which reinforce the value of Drosophila in modeling human cardiac diseases.

  10. Serial measurements of high-sensitivity cardiac troponin T after exercise stress test in stable coronary artery disease

    DEFF Research Database (Denmark)

    Axelsson, Anna; Ruwald, Martin Huth; Dalsgaard, Morten;

    2013-01-01

    The aim was to assess serial measurements of high-sensitivity cardiac troponin T (hs-cTNT) post-exercise in patients with stable coronary artery disease (CAD).......The aim was to assess serial measurements of high-sensitivity cardiac troponin T (hs-cTNT) post-exercise in patients with stable coronary artery disease (CAD)....

  11. [Digestive system disease as manifestation of the pleiotropic action of genes in mitochondrial dysfunction].

    Science.gov (United States)

    Hrechanina, O Ia; Hrechanina, Iu B; Husar, V A; Molodan, L V

    2014-11-01

    Defined involvement lesions of the digestive system of clinical manifestations of mitochondrial dysfunction associated with both point mutations and polymorphism of mitochondrial DNA. The nature of the clinical signs of mtDNA polymorphisms carriers--multi organical, a progressive, clinical polymorphism, genetic heterogeneity with predominant involvement of energotropic bodies (cerebrum, cordis, hepatic). Set individual nosological forms of mitochondrial dysfunctions--syndromes Leia, Leber, Cairns, Sarah, MERRF, MELAS, NARP, MNGIE confirmed by clinical and genetic, morphological, biochemical, enzymatic, molecular genetics methods. It was found that 84-88% of these syndromes involving the violation of the digestive system with varying degrees of injury. This damage will be the first in the complex chain signs recovery which determines the direction of early rehabilitation.

  12. Crohn Disease of the Vulva without Gastrointestinal Manifestations in a 16-Year-Old Girl.

    Science.gov (United States)

    Zhang, Ai-jun; Zhan, Shu-hui; Chang, Hong; Gao, Yu-qiang; Li, Yan-qing

    2015-01-01

    Crohn disease of the vulva is a rare disease that is difficult to diagnose. There are limited reports describing treatment of this condition. To describe the diagnosis and treatment of a 16-year-old girl with Crohn disease of the vulva, without onset of intestinal symptoms. Crohn disease was diagnosed by histopathology. The patient was treated with corticosteroids and followed for 1 year. After the final diagnosis, cutaneous lesions responded rapidly to corticosteroid treatment, which was gradually stopped after 6 months. The disease was well controlled at the 1-year follow-up. Crohn disease of the vulva can develop alone without the onset of intestinal symptoms. Diagnosis relies on special pathologic findings. Corticosteroid treatment is effective for this condition. © 2014 Canadian Dermatology Association.

  13. The Impact of Cardiac Diseases during Pregnancy on Severe Maternal Morbidity and Mortality in Brazil.

    Directory of Open Access Journals (Sweden)

    Felipe F Campanharo

    Full Text Available To evaluate maternal heart disease as a cause or complicating factor for severe morbidity in the setting of the Brazilian Network for Surveillance of Severe Maternal Morbidity.Secondary data analysis of this multicenter cross-sectional study was implemented in 27 referral obstetric units in Brazil. From July 2009 to June 2010, a prospective surveillance was conducted among all delivery hospitalizations to identify cases of severe maternal morbidity (SMM, including Potentially Life-Threatening Conditions (PLTC and Maternal Near Miss (MNM, using the new criteria established by the WHO. The variables studied included: sociodemographic characteristics, clinical and obstetric history of the women; perinatal outcome and the occurrence of maternal outcomes (PLTC, MNM, MD between groups of cardiac and non-cardiac patients. Only heart conditions with hemodynamic impact characterizing severity of maternal morbidity were considered. 9555 women were included in the Network with severe pregnancy-related complications: 770 maternal near miss cases and 140 maternal death cases. A total of 293 (3.6% cases were related to heart disease and the condition was known before pregnancy in 82.6% of cases. Maternal near miss occurred in 15% of cardiac disease patients (most due to clinical-surgical causes, p<0.001 and 7.7% of non-cardiac patients (hemorrhagic and hypertensive causes, p<0.001. Maternal death occurred in 4.8% of cardiac patients and in 1.2% of non-cardiac patients, respectively.In this study, heart disease was significantly associated with a higher occurrence of severe maternal outcomes, including maternal death and maternal near miss, among women presenting with any severe maternal morbidity.

  14. Sexual dimorphism in Parkinson’s disease: differences in clinical manifestations, quality of life and psychosocial functioning between males and females

    OpenAIRE

    Farhadi, Farzaneh; Vosoughi, Kia; Shahidi, Gholam Ali; Delbari, Ahmad; Lökk, Johan; Fereshtehnejad, Seyed-Mohammad

    2017-01-01

    Introduction Sex-related differences in clinical manifestations and consequences of Parkinson’s disease (PD) have been poorly explored. Better understanding of sexual dimorphism in neurologic diseases such as PD has been announced as a research priority. The aim of our study was to determine independent sex differences in clinical manifestations and subtypes, psychosocial functioning, quality of life (QoL) and its domains between male and female individuals with PD. Patients and methods A com...

  15. Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation.

    Science.gov (United States)

    Garcia-Quintanilla, Albert; Miranzo-Navarro, Domingo

    2016-05-01

    We propose a biochemical mechanism for celiac disease and non-celiac gluten sensitivity that may rationalize many of the extradigestive disorders not explained by the current immunogenetic model. Our hypothesis is based on the homology between the 33-mer gliadin peptide and a component of the NMDA glutamate receptor ion channel - the human GRINA protein - using BLASTP software. Based on this homology the 33-mer may act as a natural antagonist interfering with the normal interactions of GRINA and its partners. The theory is supported by numerous independent data from the literature, and provides a mechanistic link with otherwise unrelated disorders, such as cleft lip and palate, thyroid dysfunction, restless legs syndrome, depression, ataxia, hearing loss, fibromyalgia, dermatitis herpetiformis, schizophrenia, toxoplasmosis, anemia, osteopenia, Fabry disease, Barret's adenocarcinoma, neuroblastoma, urinary incontinence, recurrent miscarriage, cardiac anomalies, reduced risk of breast cancer, stiff person syndrome, etc. The hypothesis also anticipates better animal models, and has the potential to open new avenues of research.

  16. Multimodality Cardiac Imaging in a Patient with Kawasaki Disease and Giant Aneurysms

    Science.gov (United States)

    Srinivasan, Ranjini; Weller, Rachel; Einstein, Andrew J.

    2016-01-01

    Kawasaki disease is a well-known cause of acquired cardiac disease in the pediatric and adult population, most prevalent in Japan but also seen commonly in the United States. In the era of intravenous immunoglobulin (IVIG) treatment, the morbidity associated with this disease has decreased, but it remains a serious illness. Here we present the case of an adolescent, initially diagnosed with Kawasaki disease as an infant, that progressed to giant aneurysm formation and calcification of the coronary arteries. We review his case and the literature, focusing on the integral role of multimodality imaging in managing Kawasaki disease. PMID:27872783

  17. Cardiac complications of arteriovenous fistulas in patients with end-stage renal disease.

    Science.gov (United States)

    Alkhouli, Mohamad; Sandhu, Paul; Boobes, Khlaed; Hatahet, Kamel; Raza, Farhan; Boobes, Yousef

    2015-01-01

    Cardiovascular disease is the leading cause of the death in dialysis patients. Arteriovenous fistulas (AVFs) are associated with lower mortality and are viewed as the desired access option in most patients with advanced kidney disease needing dialysis. However, AVFs have significant and potentially deleterious effects on cardiac functions particularly in the setting of preexisting heart disease. This article provides a comprehensive and contemporary review to what is known about the impact of AVFs on: congestive heart failure, left ventricular hypertrophy, pulmonary hypertension, right ventricular dysfunction, coronary artery disease and valvular heart disease. Copyright © 2015 The Authors. Published by Elsevier España, S.L.U. All rights reserved.

  18. Passive ventricular remodeling in cardiac disease: Focus on heterogeneity

    Directory of Open Access Journals (Sweden)

    Elise L Kessler

    2014-12-01

    Full Text Available Passive ventricular remodeling is defined by the process of molecular ventricular adaptation to different forms of cardiac pathophysiology. It includes changes in tissue architecture, such as hypertrophy, fiber disarray, alterations in cell size and fibrosis. Besides that, it also includes molecular remodeling of gap junctions, especially those composed by Connexin43 proteins (Cx43 in the ventricles that affect cell-to-cell propagation of the electrical impulse, and changes in the sodium channels that modify excitability. All those alterations appear mainly in a heterogeneous manner, creating irregular and inhomogeneous electrical and mechanical coupling throughout the heart. This can predispose to reentry arrhythmias and adds to a further deterioration into heart failure. In this review, passive ventricular remodeling is described in Hypertrophic Cardiomyopathy (HCM, Dilated Cardiomyopathy (DCM, Ischemic Cardiomyopathy (ICM, and Arrhythmogenic Cardiomyopathy (ACM, with a main focus on the heterogeneity of those alterations mentioned above.

  19. A survey of clinical manifestations and risk factors in women with Dupuytren's disease.

    Science.gov (United States)

    Degreef, Ilse; Steeno, Pieter; De Smet, Luc

    2008-08-01

    Dupuytren's disease is very common, with a prevalence of up to 40% in the Scandinavian population. Although many epidemiological surveys have been conducted, little is known about its aetiology. Multiple risk factors in Dupuytren's disease have been identified. About 80% of the affected patients are male. Even though recent data suggest similar outcome after surgical treatment in the female patient, recurrence after surgery is more frequent. To assess Dupuytren's disease in women, a record analysis and a survey of risk factors was conducted in 130 female patients surgically treated at our institution between 1988 and 2005. With a response rate of 52%, 65 women were included (6 patients were confirmed dead). The mean age of onset of the disease was 50 years and 6 months. After a mean follow-up of 7 years and 7 months (2y1m to 21y9m), recurrent disease after surgery was reported in 42%. Bilateral disease was present in 54%, unilateral in 26% right and 20% left hands. The fifth finger was involved in 77%, the 4th finger in 48% and the 1st ray in 14%. Ectopic lesions were seen in 19%, with a positive family history in 55%. Only one patient had a confirmed alcohol abuse; 22% were smokers. There were 32% manual workers. Shoulder pain was present in 54% of the patients, with confirmed diagnosis of frozen shoulder syndrome in 45%. High cholesterol was diagnosed in 39% and only 6% had diabetes. Epilepsy was seen in 5%. High disease recurrence and factors related to an aggressive course of the disease are present in female patients with Dupuytren's contracture, with a high family history occurrence, bilateral disease and associated Ledderhose disease. Several known risk factors were present: high cholesterol, smoking and manual work. Frozen shoulder showed a very high prevalence in women with Dupuytren's disease.

  20. Cardiac lesions and initial laboratory data in Kawasaki disease: a nationwide survey in Japan.

    Science.gov (United States)

    Kuwabara, Masanari; Yashiro, Mayumi; Kotani, Kazuhiko; Tsuboi, Satoshi; Ae, Ryusuke; Nakamura, Yosikazu; Yanagawa, Hiroshi; Kawasaki, Tomisaku

    2015-01-01

    Cardiac lesions, such as coronary dilatation, aneurysms, narrowing, myocardial infarction, and valvular lesions, sometimes occur in Kawasaki disease, but most studies have only evaluated cardiac lesions in the later phase of the disease. This study was undertaken to clarify the related factors between cardiac lesions and laboratory data in the initial phase of Kawasaki disease. We conducted a cross-sectional study using data for 26 691 patients from the 22nd nationwide survey of Kawasaki disease in Japan, the observation period of which was from January 2011 through December 2012. We excluded patients with recurrent Kawasaki disease and who were more than seven days from the start of symptoms at admission. We analyzed 23 155 cases (13 353 boys; mean age: 923 ± 734 days) with available laboratory data for white blood cell count, platelet count, serum albumin, and C-reactive protein (CRP). Cardiac lesions were detected in 984 cases (656 boys and 328 girls); lesions were classified as coronary dilatation (764 cases), coronary aneurysm (40), giant coronary aneurysm (6), coronary narrowing (3), and valvular lesions (204). The significant related factors of initial coronary dilatation were male sex (odds ratio [OR] 1.73), older age (OR per 100 days increase 1.03), higher platelet count (OR per 10 000 cells/µL increase 1.006), lower albumin (OR per 1 g/dL increase 0.66), and higher CRP (OR per 1 mg/dL increase 1.02). The factors related to coronary aneurysm were higher platelet count (OR 1.01) and lower albumin (OR 0.34). No factors were significantly related to giant coronary aneurysm. The related factors of valvular lesions were age (OR 0.98), and higher CRP (OR 1.05). Clinicians should consider male sex, older age, higher platelet count, lower albumin levels, and higher CRP levels when assessing risk of cardiac lesions in the initial phase of Kawasaki disease.