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Sample records for atypical kawasaki disease

  1. Kawasaki Disease

    Science.gov (United States)

    ... Content Article Body What is Kawasaki disease? Kawasaki disease is a serious and perplexing disease, the cause of which is ... influenza) with aspirin has been linked with a serious disease called Reye syndrome. Always consult your pediatrician before ...

  2. Multiple giant succular and fusiform right and left coronary artery aneurysms after early and adequate treatment of atypical kawasaki disease with unusual presentation.

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    Mostafa Behjati-Ardakani

    2014-06-01

    Full Text Available The major complication of Kawasaki disease is coronary artery dilatation and aneurysm. It occurs in approximately 15-25% of untreated children with Kawasaki Disease. Early diagnosis and treatment with Intravenous immune globulin (IVIG and aspirin (ASA can reduce the incidence of coronary artery abnormality to 2%-5%. We report one case of Atypical Kawasaki Disease with Multiple giant coronary artery aneurysms despite early adequate treatment with IVIG and ASA.

  3. Evidence of Acute Mycoplasma Infection in a Patient with Incomplete and Atypical Kawasaki Disease: A Case Report

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    M. Ebrahim

    2011-01-01

    Full Text Available The etiology of Kawasaki disease remains unknown despite extensive studies. Some researchers suggest that it is caused by an infectious agent. This is a case report where a patient with incomplete Kawasaki disease was found to have evidence compatible with acute Mycoplasma pneumoniae infection. This is one of the several case reports linking Mycoplasma pneumoniae to Kawasaki disease as a possible trigger. This is perhaps due to a superantigen or is mediated by some other mechanism. Accurate and timely testing for Mycoplasma infections is difficult and has its limitations. Despite this, Mycoplasma pneumoniae should be considered in the differential and workup for Kawasaki disease.

  4. Living with Kawasaki Disease

    Science.gov (United States)

    ... all children, not just those who have Kawasaki disease). Children treated with immune globulin should wait 11 months before having measles and chicken pox vaccines. Immune globulin can prevent these vaccines ...

  5. Kawasaki Disease Mimicking Retropharyngeal Abscess

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    Srividhya, Vazhkudai Sridharan; Vasanthi, Thiruvengadam; Shivbalan, Somu

    2010-01-01

    Kawasaki disease is an acute, self-limiting febrile mucocutaneous vasculitis of infants and young children. Retropharyngeal lymphadenopathy is a rare presentation of Kawasaki disease. We present a case of Kawasaki disease mimicking a retropharyngeal abscess, with upper airway obstruction resulting in delayed diagnosis. PMID:20635457

  6. How Is Kawasaki Disease Treated?

    Science.gov (United States)

    ... all children, not just those who have Kawasaki disease.) Children who have had immune globulin should wait 11 months before having the measles and chicken pox vaccines. Immune globulin can prevent those vaccines ...

  7. [Kawasaki disease and cranial nerve involvement: two cases].

    Science.gov (United States)

    Delafay, M-C; Matoussi, Z; Remy-Piccolo, V; Gay, C; Veyrier, M; Stéphan, J-L

    2015-08-01

    CNS involvement, except classical lymphocytic meningitis, is exceptionally rare in Kawasaki disease. Herein, we report on two atypical cases of KD with cranial nerve inflammation. The first case presented supranuclear vertical palsy and the second case Bell palsy. Outcome was promptly favorable with IV immunoglobulins, with no long-term complications. No specific KD biomarkers are available and diagnosis of atypical forms is difficult. KD can mimic a systemic illness and appropriate therapy may be delayed. PMID:26141803

  8. Myocardial ischemia in Kawasaki disease

    International Nuclear Information System (INIS)

    The detection of myocardial ischemia is essential for evaluation of patients with Kawasaki disease, especially who have had coronary artery lesions. To evaluate the clinical efficacy of Tl-201 single photon emission computed tomography (SPECT) after dipyridamole infusion (maximum dose 0.70 mg/kg) for detecting myocardial ischemia, 44 patients with Kawasaki disease aged 7.7±4.8 years at the study and 10 age matched controls were observed. In the Kawasaki disease group, significant coronary artery stenosis was observed in 14, coronary aneurysm without stenosis in 18, the regression of the coronary aneurysms in 2 and without coronary lesions in 10 patients. In 24 of 44 patients, treadmill exercise stress test was also performed at the same period. Myocardial ischemic changes were observed in 11 patients, all combined with significant coronary artery stenosis. The sensitivity of SPECT for detection of overall coronary stenosis was 79%, coronary that of treadmill exercise test was only 33% (p<0.001). Furthermore, among the patients having significant coronary stenosis, the severity score was significantly elevated in patients who had electrocardiographic abnormal Q wave compared to those without abnormal Q wave (51.0±38.8 versus 20.0±12.1, p<0.05). These data suggest that the pharmacological stress scintigraphy using dipyridamole injection provides not only the accurate detection but quantitative evaluation of myocardial ischemia in these patients. This noninvasive technique may become one of the most useful index for detection and follow-up of myocardial ischemia in Kawasaki disease. (author)

  9. Primary Treatment of Kawasaki Disease with Corticosteroids

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    Singhal, Swati; Mishra, Devendra; Kurien, Sumod; Juneja, Monica

    2014-01-01

    Kawasaki disease (KD), is the leading cause of acquired heart disease in children in the developed world. The use of aspirin and intravenous immunoglobulin as the initial therapy in KD is the standard of care, as they reduce the incidence of coronary artery aneurysms, the major cardiac morbidity from this disease. The place of corticosteroids in the initial therapy is; however, controversial. We describe the course of a one-year-old child with Kawasaki disease who was treated with aspirin and...

  10. Kawasaki disease: review of 21 cases

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    Cem Arat

    2016-03-01

    Conclusion: Kawasaki disease has difficulty in diagnosis because of having broad spectrum of presenting symptoms. Early diagnosis and treatment is very important in preventing coronary artery abnormalities. [Cukurova Med J 2016; 41(1.000: 97-104

  11. Sensorineural hearing loss in Kawasaki disease.

    Science.gov (United States)

    Aggarwal, Varun; Etinger, Veronica; Orjuela, Andres F

    2016-01-01

    Kawasaki disease is a common nonspecific vasculitis seen in childhood. The most significant long-term sequela is coronary artery aneurysm. However, the spectrum of complications involves not only the heart, but also other organs such as the eyes, skin, kidneys, gallbladder, liver, and central nervous system. Sensorineural hearing loss (SNHL) is a relatively unrecognized complication of the disease. Although most of the complications (except coronary artery aneurysm) are self-limiting, SNHL can be persistent. It is, especially important in infants and young children who might not be able to report the hearing deficits and are most likely to have cognitive and speech delays if this hearing loss is not addressed in a timely manner. We report a child with Kawasaki disease who had SNHL during the 2(nd) week of the illness. The aim of this article is to briefly review the pathophysiology behind this hearing loss and strongly emphasize the importance of universal hearing evaluation in all children diagnosed with Kawasaki disease. This screening in children with Kawasaki disease may provide some timely intervention if needed. Since most Kawasaki disease patients will be seen by cardiologists, we hope to create more awareness about this complication to the cardiology community as well. PMID:27011703

  12. Genetics Home Reference: Kawasaki disease

    Science.gov (United States)

    ... abnormal response are unknown. Because cases of the disorder tend to cluster geographically and by season, researchers have suggested that an infection may be involved. However, no infectious agent (such as a virus or bacteria) has been ... disease . The ITPKC gene provides instructions for making an ...

  13. Segmented Coronary Artery Aneurysms and Kawasaki Disease

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    Hamid Reza Ghaemi

    2011-05-01

    Full Text Available Kawasaki disease (KD is an acute vasculitis syndrome of unknown etiology. It occurs in infants and young children,affecting mainly small and medium-sized arteries, particularly the coronary arteries. Generalized microvasculitis occurs in the first 10 days, and the inflammation persists in the walls of medium and small arteries, especially the coronary arteries, and changes to coronary artery aneurysms.We report the case of a 10-month-old girl referred to our center three months after the onset of disease due to the aneurysmsof the coronary arteries. During the acute phase of her illness, she received 2 gr/kg intravenous gamma globulin; and afterher referral to us, the patient was treated by antiaggregant doses of acetylsalicylic acid (ASA (5 mg/kg and Warfarin (1 mg/daily. At three months’ follow-up, the aneurysms still persisted in the echocardiogram.

  14. Kawasaki disease following Rocky Mountain spotted fever: a case report

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    Bal Aswine K; Kairys Steven W

    2009-01-01

    Abstract Introduction Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. Case presentation We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenou...

  15. Kawasaki disease following Rocky Mountain spotted fever: a case report

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    Bal Aswine K

    2009-07-01

    Full Text Available Abstract Introduction Kawasaki disease is an idiopathic acute systemic vasculitis of childhood. Although it simulates the clinical features of many infectious diseases, an infectious etiology has not been established. This is the first reported case of Kawasaki disease following Rocky Mountain spotted fever. Case presentation We report the case of a 4-year-old girl who presented with fever and petechial rash. Serology confirmed Rocky Mountain spotted fever. While being treated with intravenous doxycycline, she developed swelling of her hands and feet. She had the clinical features of Kawasaki disease which resolved after therapy with intravenous immune globulin (IVIG and aspirin. Conclusion This case report suggests that Kawasaki disease can occur concurrently or immediately after a rickettsial illness such as Rocky Mountain spotted fever, hypothesizing an antigen-driven immune response to a rickettsial antigen.

  16. Kawasaki disease with Glucose-6-Phosphate Dehydrogenase deficiency, case report

    OpenAIRE

    Obeidat, Hesham Radi; Al-Dossary, Sahar; Asseri, Abdulsalam

    2014-01-01

    Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that occurs predominantly in infants and children younger than 5 years of age. Coronary artery abnormalities are the most serious complication.

  17. Erythema Marginatum as an Unusual Presentation for Kawasaki Disease

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    I. Sedighi; H. Bazmamoun; A. Amanati

    2008-01-01

    Introduction: Kawasaki disease is an acute, systemic vacuity that predominantly manifests in infants and young children. Severe systemic inflammation and vacuities can cause cardiovascular involvement, particularly coronary artery injury that includes dilatation or aneurysm. The final goal of treatment for acute Kawasaki disease، therefore، is to diminish systemic inflammation and vacuities as soon as possible, thereby, preventing progression to coronary artery injury and thrombosis.Case Repo...

  18. Kawasaki disease: report of 34 cases Original Article

    OpenAIRE

    YAVUZ, Taner; Öner, Naci; Ömeroğlu, Rukiye Eker Eker; Dindar, Aygün; Aydoğan, Ümrah; Ertuğrul, Türkan

    2006-01-01

    Aim: In this study we present children with Kawasaki disease and compare with the other series of patients reported in Turkey Material and Method: This is a retrospective study of 34 children admitted and treated with the clinical diagnosis of Kawasaki disease at our Pediatric Cardiology Unit in the last five years Complete blood count erythrocyte sedimentation rate routine urine examination measurements serum hepatic transaminase and C reactive protein and echocardiography were the studies p...

  19. Cardiospect (CS) in Pediatrics. Kawasaki Disease (KD)

    International Nuclear Information System (INIS)

    The first publication of the EK was in the year 1967, by T. Kawasaki, referring to 50 cases and establishing clinical diagnostic criteria of the disease, including cardiac involvement. In 1968 T. Yamamoto published a series of cases of EK, in which 48% had electrocardiographic abnormalities, establishing that the cardiac involvement was a common occurrence in this disease. The international incidence is between 1 and 5 per 100 000 and mortality between 0.1% and 5% difference related to the study and better recognition and hence early and appropriate treatment in countries where EK is more frequent. Mortality is higher in men and in children under one year old. The cardiac manifestations are one of the most important EK: approximately 15-25% of untreated children develop coronary abnormalities, acute myocardial infarction and myocarditis. Studies of CS can be used to assess myocardial ischemia or viability within the context of stress with dipyridamole or rest study in patients with acute symptoms or follow-up post revascularization. Thus it follows a forecast or defining complications. We present the cases of three patients with KD seen in the past year at our institution who had related heart disease and who underwent CS studies. It describes the technical findings and local acquisition, processing and diagnostic and clinical relevance. (author)

  20. [Kawasaki disease: interdisciplinary and intersocieties consensus (clinical guidelines). Brief version].

    Science.gov (United States)

    2016-08-01

    Kawasaki disease is an acute self-limiting systemic vasculitis. It is the most common cause of acquired heart disease, with the risk of developing coronary artery aneurysms, myocardial infarction and sudden death. Diagnosis is based on the presence of fever in addition to other clinical criteria. The quarter of the Kawasaki disease patients have "incomplete" presentation. Treatment with intravenous immunoglobulin within ten days of fever onset improves clinical outcomes and reduces the incidence of coronary artery dilation to less than 5%. Non-responders to standard therapy have shown a successful response with the use of corticosteroids and/or biological agents. The long-term management must be delineated according to the degree of coronary involvement in a multidisciplinary manner. To facilitate the pediatrician's diagnosis, treatment and monitoring of Kawasaki disease, a group of experts from the Argentine Society of Pediatrics and the Argentine Society of Cardiology carried out a consensus to develop practical clinical guidelines. PMID:27399018

  1. Coronary CT angiography and MR angiography of Kawasaki disease

    International Nuclear Information System (INIS)

    Although the incidence of coronary artery aneurysms has diminished in patients with Kawasaki disease, coronary artery involvement is still regarded as a major complication of the disease, significantly affecting morbidity and mortality. Recent technical advances in coronary CT angiography (CTA) and MR angiography (MRA) have led to the possibility of using these two imaging methods as minimally invasive alternatives to the more invasive diagnostic catheter angiography in evaluating coronary artery abnormalities, such as aneurysm, stenosis, and occlusion. In this article, we describe imaging techniques and findings of coronary CTA and MRA in Kawasaki disease. (orig.)

  2. Diagnosis of myocardial ischemia in Kawasaki disease

    International Nuclear Information System (INIS)

    Thallium-201 myocardial imaging was performed at rest in 131 children with coronary arterial lesions due to Kawasaki disease. The coronary arterial lesions were assessed by selective coronary angiography within a few days of the isotope study. Twenty-one children ha d occlusive lesions, and segmental stenotic lesions were seen in 16 children. Perfusion defects of the myocardial images were detected in nine of the former and in three of the latter. The locations of the perfusion defects coincided with the perfusion areas of the affected vessels on coronary angiography. Twelve patients with initial perfusion defects at rest had a follow-up study and the defects disappeared in five. Myocardial imaging with exercise was performed in 27 patients including four with coronary arterial occlusion and two with segmental stenosis on coronary angiography. All with coronary artery lesions showed perfusion defects on the imaging with exercise, while the resting study showed the defects only in one patient, in whom more extensive perfusion defects were observed after exercise. Myocardial imaging following intravenous injection of dipyridamole was carried out in 43 patients. Perfusion defects after the injection were noted in 15 of 17 patients with coronary occlusion and in nine of 13 patients with segmental stenosis. In four patients with perfusion defects at rest, additional or more extensive defects were revealed by this drug in the areas of additional coronary arterial involvements. In 20 patients with perfusion defects only after dipyridamole injection, the perfusion defects coincided with the angiographic findings very well. A perfusion defect was documented following dipyridamole injection in one exceptional patient who had no stenotic lesions, but had three giant coronary aneurysms of the right coronary artery. Thus the dilated coronary lesions seemed to give a perfusion defect. (J.P.N.)

  3. Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium.

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    Lee, Jong-Keuk; Hong, Young Mi; Jang, Gi Young; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Rang

    2015-11-01

    In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors. PMID:26617644

  4. Resistant Kawasaki disease, case report and literatures review

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    M.J. Saffar

    2006-01-01

    Full Text Available A child with aggressive and resistant Kawasaki disease with coronary aneurysm is described. Despite two doses of immune globulin and high dose of aspirin the patient was treated with the third dose of immune globulin. The patient apparently responded to normalization of symptoms and signs, with no more progression of coronary artery abnormalities.

  5. Vascular health late after Kawasaki disease: implications for accelerated atherosclerosis

    OpenAIRE

    Cheung, Yiu-Fai

    2014-01-01

    Kawasaki disease (KD), an acute vasculitis that primarily affects young children, is the most common acquired paediatric cardiovascular disease in developed countries. While sequelae of arterial inflammation in the acute phase of KD are well documented, its late effects on vascular health are increasingly unveiled. Late vascular dysfunction is characterized by structural alterations and functional impairment in term of arterial stiffening and endothelial dysfunction and shown to involve both ...

  6. Kawasaki Disease in India, Lessons Learnt Over the Last 20 Years.

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    Singh, Surjit; Kawasaki, Tomisaku

    2016-02-01

    Over the last 20 years, Kawasaki disease is being increasingly recognized in India and it may soon replace acute rheumatic fever to become the commonest cause of acquired heart disease amongst children. However, the vast majority of children with Kawasaki disease in India are still not being diagnosed. Diagnosis of Kawasaki disease is based on a constellation of clinical findings which have a typical temporal sequence. All pediatricians must we familiar with the nuances involved in arriving at a diagnosis of Kawasaki disease. With early diagnosis and prompt treatment, the risk of coronary artery abnormalities can be significantly reduced. PMID:26897142

  7. Changes in Coronary Perfusion after Occlusion of Coronary Arteries in Kawasaki Disease

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    Kwak, Ji Hee; Song, Jinyoung; Kang, I-Seok; Huh, June; Lee, Heung-Jae

    2014-01-01

    Purpose Myocardial infarction in children with total occlusion of a coronary artery after Kawasaki disease is rare due to multiple collateral vessels. We aimed to investigate the changes in coronary perfusion associated with coronary artery occlusion after Kawasaki disease. Materials and Methods Eleven patients with coronary artery occlusion after Kawasaki disease were investigated. Serial coronary angiographies after total occlusion of a coronary artery were reviewed and the changes were des...

  8. Myocardial infarction in a 35-day-old infant with incomplete Kawasaki disease and chicken pox.

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    Kossiva, Lydia; Papadopoulos, Marios; Lagona, Evangelia; Papadopoulos, George; Athanassaki, Corina

    2010-10-01

    Kawasaki disease is an acute febrile vasculitis of infancy and early childhood. It is uncommon in early infancy, because a significant proportion of these children do not meet the classical diagnostic criteria at this age. Infants younger than 6 months with persistent fever and some of the criteria of Kawasaki disease should always raise suspicion for Kawasaki disease early to avoid delayed diagnosis with severe cardiac complications. We present a 35-day-old infant with incomplete Kawasaki disease complicated with myocardial infarction during chicken pox. PMID:20633312

  9. Kawasaki disease with Glucose-6-Phosphate Dehydrogenase deficiency, case report.

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    Obeidat, Hesham Radi; Al-Dossary, Sahar; Asseri, Abdulsalam

    2015-09-01

    Kawasaki disease (KD) is an acute, self-limited vasculitis of unknown etiology that occurs predominantly in infants and children younger than 5 years of age. Coronary artery abnormalities are the most serious complication. Based on the literatures infusion of Intravenous Immunoglobulin of 2 g/kg and a high dose of oral aspirin up to 100 mg/kg/day are the standard treatment for Kawasaki disease in the acute stage, and should be followed by antiplatelet dose of aspirin for thrombocytosis. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an inherited X-linked hereditary disorder, and aspirin can induce hemolysis in patients with G6PD deficiency. We report a case of a 5 year and 8 month old male with KD and G6PD deficiency. PMID:27134550

  10. Establishment of Kawasaki disease database based on metadata standard

    Science.gov (United States)

    Park, Yu Rang; Kim, Jae-Jung; Yoon, Young Jo; Yoon, Young-Kwang; Koo, Ha Yeong; Hong, Young Mi; Jang, Gi Young; Shin, Soo-Yong; Lee, Jong-Keuk

    2016-01-01

    Kawasaki disease (KD) is a rare disease that occurs predominantly in infants and young children. To identify KD susceptibility genes and to develop a diagnostic test, a specific therapy, or prevention method, collecting KD patients’ clinical and genomic data is one of the major issues. For this purpose, Kawasaki Disease Database (KDD) was developed based on the efforts of Korean Kawasaki Disease Genetics Consortium (KKDGC). KDD is a collection of 1292 clinical data and genomic samples of 1283 patients from 13 KKDGC-participating hospitals. Each sample contains the relevant clinical data, genomic DNA and plasma samples isolated from patients’ blood, omics data and KD-associated genotype data. Clinical data was collected and saved using the common data elements based on the ISO/IEC 11179 metadata standard. Two genome-wide association study data of total 482 samples and whole exome sequencing data of 12 samples were also collected. In addition, KDD includes the rare cases of KD (16 cases with family history, 46 cases with recurrence, 119 cases with intravenous immunoglobulin non-responsiveness, and 52 cases with coronary artery aneurysm). As the first public database for KD, KDD can significantly facilitate KD studies. All data in KDD can be searchable and downloadable. KDD was implemented in PHP, MySQL and Apache, with all major browsers supported. Database URL: http://www.kawasakidisease.kr

  11. 9 cases of coronary stenotic lesion due to Kawasaki disease

    International Nuclear Information System (INIS)

    Myocardial Tl-201 SPECT was undertaken in 9 children with selective coronary arteriographically (S-CAG) proven stenotic lesions associated with Kawasaki disease. A decrease in perfusion and/or perfusion defect were seen on SPECT in 6 patients, corresponding to the findings of S-CAG. Among six patients undergoing SPECT 4 hr after the iv injection of dipyridamole, only one had incomplete redistribution. SPECT may be of value for evaluating the presence of stenotic lesions and myocardial viability. (Namekawa, K.)

  12. Lipoprotein Particle Concentrations in Children and Adults following Kawasaki Disease

    OpenAIRE

    J. Lin; Jain, S; X. Sun; Liu, V.; Sato, YZ; Jimenez-Fernandez, S; Newfield, RS; Pourfarzib, R; Tremoulet, AH; Gordon, JB; Daniels, LB; Burns, JC

    2014-01-01

    Objective: To test the hypothesis that children and adults with a history of Kawasaki disease (KD) are more likely to have abnormal lipoprotein particle profiles that could place them at increased risk for developing atherosclerosis later in life. Study design: Fasting serum samples were obtained from 192 children and 63 adults with history of KD and 90 age-similar healthy controls. Lipoprotein particle concentrations and sizes were measured by nuclear magnetic resonance spectroscopy (LipoSci...

  13. Lipoprotein particle concentrations in children and adults following kawasaki disease

    OpenAIRE

    J. Lin; Jain, S; X. Sun; Liu, V.; Sato, YZ; Jimenez-Fernandez, S; Newfield, RS; Pourfarzib, R; Tremoulet, AH; Gordon, JB; Daniels, LB; Burns, JC

    2014-01-01

    © 2014 Elsevier Inc. Objective To test the hypothesis that children and adults with a history of Kawasaki disease (KD) are more likely to have abnormal lipoprotein particle profiles that could place them at increased risk for developing atherosclerosis later in life. Study design Fasting serum samples were obtained from 192 children and 63 adults with history of KD and 90 age-similar healthy controls. Lipoprotein particle concentrations and sizes were measured by nuclear magnetic resonance sp...

  14. Lipoprotein particle concentrations in children and adults following kawasaki disease

    OpenAIRE

    Lin, J.; S. Jain; X. Sun; Liu, V; Sato, YZ; Jimenez-Fernandez, S; Newfield, RS; Pourfarzib, R; Tremoulet, AH; Gordon, JB; Daniels, LB; Burns, JC

    2014-01-01

    Objective: To test the hypothesis that children and adults with a history of Kawasaki disease (KD) are more likely to have abnormal lipoprotein particle profiles that could place them at increased risk for developing atherosclerosis later in life. Study design: Fasting serum samples were obtained from 192 children and 63 adults with history of KD and 90 age-similar healthy controls. Lipoprotein particle concentrations and sizes were measured by nuclear magnetic resonance spectroscopy (LipoSci...

  15. Infliximab Treatment for Refractory Kawasaki Disease in Korean Children

    OpenAIRE

    Song, Min Seob; Lee, Sang Bum; Sohn, Sejung; Oh, Jin Hee; Yoon, Kyung Lim; Han, Ji Whan; Kim, Chul Ho

    2010-01-01

    Background and Objectives This was a multicenter study to evaluate the usefulness of the tumor necrosis factor-alpha (TNF-α) blocker infliximab for treatment of Korean pediatric patients with refractory Kawasaki disease (KD). Subjects and Methods Data from 16 patients throughout Korea who were diagnosed with refractory KD and received infliximab were collected retrospectively. Results Complete response to therapy with cessation of fever occurred in 13 of 16 patients. C-reactive protein (CRP) ...

  16. A diagnostic algorithm combining clinical and molecular data distinguishes Kawasaki disease from other febrile illnesses

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    Ling Xuefeng B

    2011-12-01

    Full Text Available Abstract Background Kawasaki disease is an acute vasculitis of infants and young children that is recognized through a constellation of clinical signs that can mimic other benign conditions of childhood. The etiology remains unknown and there is no specific laboratory-based test to identify patients with Kawasaki disease. Treatment to prevent the complication of coronary artery aneurysms is most effective if administered early in the course of the illness. We sought to develop a diagnostic algorithm to help clinicians distinguish Kawasaki disease patients from febrile controls to allow timely initiation of treatment. Methods Urine peptidome profiling and whole blood cell type-specific gene expression analyses were integrated with clinical multivariate analysis to improve differentiation of Kawasaki disease subjects from febrile controls. Results Comparative analyses of multidimensional protein identification using 23 pooled Kawasaki disease and 23 pooled febrile control urine peptide samples revealed 139 candidate markers, of which 13 were confirmed (area under the receiver operating characteristic curve (ROC AUC 0.919 in an independent cohort of 30 Kawasaki disease and 30 febrile control urine peptidomes. Cell type-specific analysis of microarrays (csSAM on 26 Kawasaki disease and 13 febrile control whole blood samples revealed a 32-lymphocyte-specific-gene panel (ROC AUC 0.969. The integration of the urine/blood based biomarker panels and a multivariate analysis of 7 clinical parameters (ROC AUC 0.803 effectively stratified 441 Kawasaki disease and 342 febrile control subjects to diagnose Kawasaki disease. Conclusions A hybrid approach using a multi-step diagnostic algorithm integrating both clinical and molecular findings was successful in differentiating children with acute Kawasaki disease from febrile controls.

  17. Common variants in CASP3 confer susceptibility to Kawasaki disease

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    Onouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro

    2010-01-01

    Kawasaki disease (KD; OMIM 611775) is an acute vasculitis syndrome which predominantly affects small- and medium-sized arteries of infants and children. Epidemiological data suggest that host genetics underlie the disease pathogenesis. Here we report that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and US subjects of European ancestry. We found that a G to A substitution of one commonly associated SNP located in the 5′ untranslated region of CASP3 (rs72689236; P = 4.2 × 10−8 in the Japanese and P = 3.7 × 10−3 in the European Americans) abolished binding of nuclear factor of activated T cells to the DNA sequence surrounding the SNP. Our findings suggest that altered CASP3 expression in immune effecter cells influences susceptibility to KD. PMID:20423928

  18. Procalcitonin Levels in Patients with Complete and Incomplete Kawasaki Disease

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    Hwa Jin Cho

    2013-01-01

    Full Text Available Incomplete Kawasaki disease (iKD is considered to be a less complete form of Kawasaki disease (cKD, and several differences in the laboratory presentations of iKD and cKD have been noted. We investigated serum procalcitonin levels in patients with iKD, cKD, and other febrile diseases (a control group. Seventy-seven patients with cKD, 24 with iKD, and 41 controls admitted to our hospital from November 2009 to November 2011 were enrolled in the present study. We obtained four measurements of serum procalcitonin levels and those of other inflammatory markers from each patient. Samples were taken for analysis on the day of diagnosis (thus before treatment commenced; D0 and 2 (D2, 14 (D14, and 56 days (D56 after intravenous immunoglobulin infusion. We obtained control group data at D0. The mean D0 serum procalcitonin levels of cKD patients (0.71±1.36 ng/mL and controls (0.67±1.06 ng/mL were significantly higher than those of iKD patients (0.26±0.26 ng/mL (P=0.014 and P=0.041, resp.. No significant difference in mean procalcitonin level was evident among groups at any subsequent time. In conclusion, the serum procalcitonin level of patients with acute-stage cKD was significantly higher than that of iKD patients.

  19. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

    Science.gov (United States)

    Onouchi, Yoshihiro; Gunji, Tomohiko; Burns, Jane C; Shimizu, Chisato; Newburger, Jane W; Yashiro, Mayumi; Nakamura, Yoshikazu; Yanagawa, Hiroshi; Wakui, Keiko; Fukushima, Yoshimitsu; Kishi, Fumio; Hamamoto, Kunihiro; Terai, Masaru; Sato, Yoshitake; Ouchi, Kazunobu; Saji, Tsutomu; Nariai, Akiyoshi; Kaburagi, Yoichi; Yoshikawa, Tetsushi; Suzuki, Kyoko; Tanaka, Takeo; Nagai, Toshiro; Cho, Hideo; Fujino, Akihiro; Sekine, Akihiro; Nakamichi, Reiichiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Nakamura, Yusuke; Hata, Akira

    2010-01-01

    Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also with an increased risk of coronary artery lesions in both Japanese and US children. Transfection experiments showed that the C allele of itpkc_3 reduces splicing efficiency of the ITPKC mRNA. ITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signaling pathway, and the C allele may contribute to immune hyper-reactivity in Kawasaki disease. This finding provides new insights into the mechanisms of immune activation in Kawasaki disease and emphasizes the importance of activated T cells in the pathogenesis of this vasculitis. PMID:18084290

  20. Usefulness of anterior uveitis as an additional tool for diagnosing incomplete Kawasaki disease

    OpenAIRE

    Lee, Kyu Jin; Kim, Hyo Jin; Kim, Min Jae; Yoon, Ji Hong; Lee, Eun Jung; Lee, Jae Young; Oh, Jin Hee; Lee, Soon Ju; Lee, Kyung Yil; Han, Ji Whan

    2016-01-01

    Purpose There are no specific tests for diagnosing Kawasaki disease (KD). Additional diagnostic criteria are needed to prevent the delayed diagnosis of incomplete Kawasaki disease (IKD). This study compared the frequency of coronary artery lesions (CALs) in IKD patients with and without anterior uveitis (AU) and elucidated whether the finding of AU supported the diagnosis of IKD. Methods This study enrolled patients diagnosed with IKD at The Catholic University of Korea, Uijeongbu St. Mary's ...

  1. Clinical and laboratory characteristics of children with Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Fatih Akın

    2015-03-01

    Full Text Available Objective: In this study, we aimed to evaluate clinical and laboratory characteristics of patients with Kawasaki disease (KD in Konya region of Turkey. Methods: The hospital records of patients who were hospitalized with the diagnosis of KD in the Pediatrics Clinics of Konya Training and Research Hospital between May 2010 and June 2012 were reviewed retrospectively. Results: Seven cases were found to have the diagnosis of KD, two of whom were incomplete KD. Oropharynx changes were the most common (100% feature in our patients. Five (71% patients had bulbar conjunctivitis. Three (43% patients had erythema at the site of BCG inoculation. Adenopathy was present in all of our patients with the classical form. A desquamation was observed in one case at the seventh day of fever. No cardiac manifestation was seen. Elevated erythrocyte sedimentation rate and thrombocytosis were present in all patients. All of the patients were received intravenous immunoglobulin in the first ten days of the fever. Conclusion: KD should be considered as a possible diagnosis in any child presenting with prolonged fever. BCG reaction can be attributed as a diagnostic criterion for incomplete form of the disease especially in countries where BCG vaccination is routinely performed. Early treatment is essential to prevent cardiovascular complications.

  2. Differential expression of miR-145 in children with Kawasaki disease.

    Directory of Open Access Journals (Sweden)

    Chisato Shimizu

    Full Text Available BACKGROUND: Kawasaki disease is an acute, self-limited vasculitis of childhood that can result in structural damage to the coronary arteries. Previous studies have implicated the TGF-β pathway in disease pathogenesis and generation of myofibroblasts in the arterial wall. microRNAs are small non-coding RNAs that modulate gene expression at the post-transcriptional level and can be transported between cells in extracellular vesicles. To understand the role that microRNAs play in modifying gene expression in Kawasaki disease, we studied microRNAs from whole blood during the acute and convalescent stages of the illness. METHODOLOGY/PRINCIPAL FINDINGS: RNA isolated from the matched whole blood of 12 patients with acute and convalescent Kawasaki disease were analyzed by sequencing of small RNA. This analysis revealed six microRNAs (miRs-143, -199b-5p, -618, -223, -145 and -145* (complementary strand whose levels were significantly elevated during the acute phase of Kawasaki disease. The result was validated using targeted qRT-PCR using an independent cohort (n = 16. miR-145, which plays a critical role in the differentiation of neutrophils and vascular smooth muscle cells, was expressed at high levels in blood samples from acute Kawasaki disease but not adenovirus-infected control patients (p = 0.005. miR-145 was also detected in small extracellular vesicles isolated from acute Kawasaki disease plasma samples. Pathway analysis of the predicted targets of the 6 differentially expressed microRNAs identified the TGF-β pathway as the top pathway regulated by microRNAs in Kawasaki disease. CONCLUSION: Sequencing of small RNA species allowed discovery of microRNAs that may participate in Kawasaki disease pathogenesis. miR-145 may participate, along with other differentially expressed microRNAs, in regulating expression of genes in the TGF-β pathway during the acute illness. If the predicted target genes are confirmed, our findings suggest a model of

  3. Qing Re Liang Xue Decoction Alleviates Hypercoagulability in Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Jiao-yang Chen

    2015-01-01

    Full Text Available Objective. Kawasaki disease (KD is a multisystemic autoimmune vasculitis. Intravenous immunoglobulin (IVIG is the first-line treatment for KD. It is unclear whether traditional Chinese medicine (TCM has an effect on KD. We aimed to observe the clinical efficacy of TCM on acute KD via serum interleukin-33 (IL-33 and tumor necrosis factor alpha (TNF-α measurements. Methods. Thirty-one KD patients were treated with Qing Re Liang Xue decoction and Western medicine (integrative medicine treatment group, while 28 KD patients were treated with Western medicine only (Western medicine treatment group. Thirty patients were included in a febrile group and 28 healthy children were included in the control group. Clinical characteristics and laboratory findings were gathered and compared. Serum IL-33 and TNF-α levels were measured by multiplex Luminex assay. Results. The platelet count in the integrative medicine treatment group was significantly lower than that in the Western medicine treatment group. The integrative medicine group had a shorter fever duration and lower IL-33 and TNF-α levels than those in the Western medicine group, but there were no significant differences between the two KD groups after treatment. Conclusion. Qing Re Liang Xue decoction improved the hypercoagulable state of KD patients. Potential myocardial protective effects require further research.

  4. Variations in ORAI1 Gene Associated with Kawasaki Disease.

    Science.gov (United States)

    Onouchi, Yoshihiro; Fukazawa, Ryuji; Yamamura, Kenichiro; Suzuki, Hiroyuki; Kakimoto, Nobuyuki; Suenaga, Tomohiro; Takeuchi, Takashi; Hamada, Hiromichi; Honda, Takafumi; Yasukawa, Kumi; Terai, Masaru; Ebata, Ryota; Higashi, Kouji; Saji, Tsutomu; Kemmotsu, Yasushi; Takatsuki, Shinichi; Ouchi, Kazunobu; Kishi, Fumio; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Sato, Yoshitake; Honda, Akihito; Kobayashi, Hironobu; Sato, Junichi; Shibuta, Shoichi; Miyawaki, Masakazu; Oishi, Ko; Yamaga, Hironobu; Aoyagi, Noriyuki; Yoshiyama, Megumi; Miyashita, Ritsuko; Murata, Yuji; Fujino, Akihiro; Ozaki, Kouichi; Kawasaki, Tomisaku; Abe, Jun; Seki, Mitsuru; Kobayashi, Tohru; Arakawa, Hirokazu; Ogawa, Shunichi; Hara, Toshiro; Hata, Akira; Tanaka, Toshihiro

    2016-01-01

    Kawasaki disease (KD; MIM#61175) is a systemic vasculitis syndrome with unknown etiology which predominantly affects infants and children. Recent findings of susceptibility genes for KD suggest possible involvement of the Ca(2+)/NFAT pathway in the pathogenesis of KD. ORAI1 is a Ca(2+) release activated Ca(2+) (CRAC) channel mediating store-operated Ca(2+) entry (SOCE) on the plasma membrane. The gene for ORAI1 is located in chromosome 12q24 where a positive linkage signal was observed in our previous affected sib-pair study of KD. A common non-synonymous single nucleotide polymorphism located within exon 2 of ORAI1 (rs3741596) was significantly associated with KD (P = 0.028 in the discovery sample set (729 KD cases and 1,315 controls), P = 0.0056 in the replication sample set (1,813 KD cases vs. 1,097 controls) and P = 0.00041 in a meta-analysis by the Mantel-Haenszel method). Interestingly, frequency of the risk allele of rs3741596 is more than 20 times higher in Japanese compared to Europeans. We also found a rare 6 base-pair in-frame insertion variant associated with KD (rs141919534; 2,544 KD cases vs. 2,414 controls, P = 0.012). These data indicate that ORAI1 gene variations are associated with KD and may suggest the potential importance of the Ca(2+)/NFAT pathway in the pathogenesis of this disorder. PMID:26789410

  5. Hemodynamic simulations in coronary aneurysms of children with Kawasaki disease

    Science.gov (United States)

    Sengupta, Dibyendu; Burns, Jane; Marsden, Alison

    2009-11-01

    Kawasaki disease (KD) is a serious pediatric illness affecting the cardiovascular system. One of the most serious complications of KD, occurring in about 25% of untreated cases, is the formation of large aneurysms in the coronary arteries, which put patients at risk for myocardial infarction. In this project we performed patient specific computational simulations of blood flow in aneurysmal left and right coronary arteries of a KD patient to gain an understanding about their hemodynamics. Models were constructed from CT data using custom software. Typical pulsatile flow waveforms were applied at the model inlets, while resistance and RCR lumped models were applied and compared at the outlets. Simulated pressure waveforms compared well with typical physiologic data. High wall shear stress values are found in the narrow region at the base of the aneurysm and low shear values occur in regions of recirculation. A Lagrangian approach has been adopted to perform particle tracking and compute particle residence time in the recirculation. Our long-term goal will be to develop links between hemodynamics and the risk for thrombus formation in order to assist in clinical decision-making.

  6. Myocardial performance and perfusion during exercise in patients with coronary artery disease caused by Kawasaki disease

    International Nuclear Information System (INIS)

    For a study of the natural history of coronary artery lesions after Kawasaki disease and their effect on myocardial blood flow reserve with exercise, five such patients underwent exercise testing on a bicycle. Oxygen consumption, carbon dioxide production, minute ventilation, and electrocardiograms were monitored continuously. Thallium-201 scintigraphy was performed for all patients. One patient stopped exercise before exhaustion of cardiovascular reserve but had no evidence of myocardial perfusion abnormalities. Four patients terminated exercise because of exhaustion of cardiovascular reserve; one had normal cardiovascular reserve and thallium scintiscans, but the remaining patients had diminished cardiovascular reserve. Thallium scintigrams showed myocardial ischemia in two and infarction in one. No patient had exercise-induced electrocardiographic changes. These results indicate that patients with residual coronary artery lesions after Kawasaki disease frequently have reduced cardiovascular reserve during exercise. The addition of thallium scintigraphy and metabolic measurements to exercise testing improved the detection of exercise-induced abnormalities of myocardial perfusion

  7. Mycoplasma pneumoniae infection in patients with Kawasaki disease

    Directory of Open Access Journals (Sweden)

    Mi Na Lee

    2011-03-01

    Full Text Available Purpose : Kawasaki disease (KD is the main cause of acquired heart disease in children. In addition to cardiovascular involvement, many complications have been recognized in KD. However, respiratory complications have been rarely reported. We investigated the differences in clinical characteristics, laboratory findings, radiography findings, and echocardiography findings of Mycoplasma pneumoniae infection and other types of pneumonia in KD patients. Methods : Among 358 patients with KD, 54 developed concurrent pneumonia. Among the 54 patients, 12 (22.2% with high titers of anti-M. pneumoniae antibody (AMA (&gt;1:640 were grouped in the M. pneumoniae group and 42 were included in the control group. Serum AMA was measured in each patient. Clinical laboratory findings and total duration of fever were analyzed. Results : The duration of fever, serum hemoglobin, white blood cell count, platelet count, erythrocyte sedimentation rate, C-reactive protein level, albumin level, and the incidence of coronary arterial lesions showed no statistical difference in the 2 groups. Neutrophil count was significantly higher in the M. pneumoniae group than in the control group. Among various radiography findings observed in pneumonia, consolidation and pleural effusion were more frequent in the M. pneumoniae group than in the control group. On the other hand, parahilar peribronchial opacification, diffuse interstitial lesion, and normal findings prevailed in the control group. Conclusion : KD patients can have concurrent infections, especially pulmonary symptoms. The cause of KD is likely to be associated with M. pneumoniae infection. Thus, immediate treatment of M. pneumoniae infection in KD patients is very important.

  8. Doença de Kawasaki: experiência clínica em hospital universitário Kawasaki disease: clinical experience in a university hospital

    Directory of Open Access Journals (Sweden)

    Angela Esposito Ferronato

    2010-06-01

    Full Text Available OBJETIVO: A doença de Kawasaki é uma vasculite sistêmica aguda de etiologia desconhecida. Seu diagnóstico baseia-se em critérios clínicos. O objetivo deste estudo foi descrever os casos de pacientes com doença de Kawasaki internados no Hospital Universitário da Universidade de São Paulo entre janeiro/2000 e junho/2008. MÉTODOS: Dentre todos os pacientes internados na Enfermaria de Pediatria no período acima, foram selecionados aqueles cujo CID de alta foi doença de Kawasaki. Realizou-se estudo descritivo por meio da análise dos prontuários dessas crianças. RESULTADOS: Foram encontrados 18 casos. A média de internações foi de 2,1 casos/ano. A idade variou de três meses a nove anos. A proporção meninos:meninas foi 1:1,25. Receberam outros diagnósticos prévios 17 pacientes, sendo escarlatina em 2/3 dos casos. O tempo de febre antes do diagnóstico variou de cinco a 11 dias. Nove crianças apresentaram quatro sinais sugestivos de doença de Kawasaki; oito apresentaram cinco sinais e uma apresentou dois sinais, o que foi considerado doença de Kawasaki incompleta. Receberam gamaglobulina 15 crianças (entre o sexto e o décimo dias de evolução e 11 (73% ficaram afebris após infusão da medicação. Os demais tiveram febre até 24 horas após a administração. Todos os pacientes realizaram ecocardiograma e três apresentaram aneurisma leve da coronária. CONCLUSÕES: A doença de Kawasaki é habitualmente confundida com outras doenças, o que causa retardo no tratamento e aumento no risco de complicações cardíacas.OBJECTIVE: Kawasaki disease is an acute systemic vasculitis of unknown etiology. Its diagnosis is based on clinical criteria. This study aimed to describe Kawasaki disease cases treated at the University Hospital of Universidade de São Paulo, from January/2000 to June/2008. METHODS: Among all patients admitted to the pediatric ward during this period, patients whose discharge ICD was Kawasaki disease were

  9. Ascending Aorta Elastography After Kawasaki Disease Compared to Systemic Hypertension.

    Science.gov (United States)

    Nandlall, Ian; Maurice, Roch L; Fournier, Anne; Merouani, Aïcha; Dahdah, Nagib

    2015-10-01

    Kawasaki disease (KD) is a systemic vasculitis, classically affecting large- and medium-size arteries. The coronary arteries draw most of the clinical attention, whereas few studies have taken interest in the ascending aorta. Using a proprietary imaging-based mechanical biomarker (ImBioMark), we sought to determine aortic stiffness in KD compared to systemic hypertension (HTN) and healthy children. We evaluated parasternal long-axis views focused on the ascending aorta in 20 controls, 12 KD, and 8 HTN as a comparative clinical model of vascular stiffness. We calculated systolic and diastolic aortic wall strain with ImBioMark. Strain was tested for normality against height, systolic, and diastolic blood pressure in normal subjects. Strain from KD and HTN was normalized (Z score) accordingly. Z score comparisons were performed using nonparametric statistics. Age was similar between KD and HTN (9.1 ± 5.3 and 9.9 ± 5.3 years old; p = NS). Systolic and diastolic strain values were normally distributed against height, systolic blood pressure, and diastolic blood pressure in healthy subjects. HTN subjects had abnormal systolic and diastolic strain values (p < 0.0001). Whereas KD subjects had normal diastolic strain, systolic strain was significantly lower (p < 0.001), and systolic strain was intermediate between controls and HTN. There were no significant differences in aortic strain among KD, however, according to the presence of coronary artery aneurysms. Despite normal blood pressure, the ascending aorta in KD exhibits reduced strain during systole. This may reflect in situ rigidity of the aorta. The normal diastolic strain in KD may, in contrast, reflect normal peripheral vascular resistance. PMID:25921428

  10. Five years of Kawasaki disease in the Netherlands a national surveillance study

    NARCIS (Netherlands)

    Tacke, C.E.; Breunis, W.B.; Pereira, R.R.; Breur, J.M.; Kuipers, I.M.; Kuijpers, T.W.

    2014-01-01

    Background: The aim of this study was to evaluate the incidence, disease presentation, treatment and cardiac outcome of Kawasaki disease (KD) in The Netherlands. Methods: The national Dutch Pediatric Surveillance Unit was used to prospectively register new KD cases from 2008 through 2012. Questionna

  11. INTESTINAL PSEUDO-OBSTRUCTION AND TRANSIENT CARDIOVASCULAR ABNORMALITIES IN KAWASAKI DISEASE

    Directory of Open Access Journals (Sweden)

    Maria L Avila-Aguero

    2005-08-01

    Full Text Available SUMMARYWe describe a 2 year-old boy with severe vasculitis who presented with a typical Kawasaki disease complicated with an intestinal pseudo-obstruction, gallbladder hydrops, myocarditis and transient coronary abnormalities despite early administration of intravenous immunoglobulin treatment.RESUMENDescribimos el caso de un niño de 2 años con vasculitis grave que presentó un cuadro típico de enfermedad de Kawasaki complicada con una pseudo-obtrucción intestinal, hidrops vesicular, miocarditis y anormalidades coronarias transitorias, a pesar de la administración temprana de tratamiento con inmunoglulina intravenosa

  12. Atypical disease phenotypes in pediatric ulcerative colitis

    DEFF Research Database (Denmark)

    Levine, Arie; de Bie, Charlotte I; Turner, Dan; Cucchiara, Salvatore; Sladek, Malgorzata; Murphy, M Stephen; Escher, Johanna C; Pærregaard, Anders

    2013-01-01

    Definitive diagnosis of pediatric ulcerative colitis (UC) may be particularly challenging since isolated colitis with overlapping features is common in pediatric Crohn's disease (CD), while atypical phenotypes of UC are not uncommon. The Paris classification allows more accurate phenotyping of...... atypical inflammatory bowel disease (IBD) patients. Our aim was to identify the prevalence of atypical disease patterns in new-onset pediatric UC using the Paris classification....

  13. Giant aortic arch aneurysm complicating Kawasaki disease: an original case report

    OpenAIRE

    Kaouthar, Hakim; Rafik, Boussaada; Jihen, Ayari; Imen, Hamdi; Lilia, Chaker; Fatma, Ouarda; Hela, Msaad

    2013-01-01

    Kawasaki disease (KD) is a common acute vasculitis in pediatric population that usually involves small and middle-sized arteries, commonly coronary arteries. Although the incidence and natural course of coronary aneurysms after KD are well documented, related reports on peripheral arterial and aortic aneurysms are scarce.

  14. Distribution and Protective Role of HLAB40 in Iranian Patients with Kawasaki Disease; a Report from Southern Iran

    OpenAIRE

    Ajami, Gholamhossein; Aflaki, Khashayar; Alyasin, Soheila; Gharesi-fard, Behrooz; BORZOUEE, Mohammad; Amoozgar, Hamid

    2014-01-01

    Objective: Kawasaki disease (KD) clinically presents as a systemic vasculitis syndrome with significant cardiovascular involvement. With different incidence among different ethnic groups, the role of certain human leukocyte antigens and their products has been considered as a crucial predisposing factor in the immune responses in this disease. Methods: We determined the distribution of human leukocyte antigens type B for 90 Iranian patients with Kawasaki disease in order to evaluate a possibl...

  15. Kawasaki Disease in Ghana: Case Reports From Korle Bu Teaching Hospital

    OpenAIRE

    Badoe, E V; Neequaye, J; Oliver-Commey, J O; Amoah, J; Osafo, A; Aryee, I; Nyarko, M Y

    2011-01-01

    Kawasaki disease, an acute febrile vasculitis, predominantly affects children under the age of 5 years and is thought to be a rare disease in the developing world. It has previously never been reported in Ghana. We report 3 cases from February, 2007 to February, 2008. This potentially serious disease has no definitive diagnostic test and it is not unusual for diagnosis to be delayed with serious consequences. Any child with irritability and persisting fever (>5 days) not responding to antipyr...

  16. Acute myocardial ischemia in adults secondary to missed Kawasaki disease in childhood

    OpenAIRE

    Rizk, SRY; El Said, G; Daniels, LB; Burns, JC; El Said, H; Sorour, KA; Gharib, S; Gordon, JB

    2015-01-01

    © 2015 Elsevier Inc. All rights reserved. Coronary artery aneurysms that occur in 25% of untreated Kawasaki disease (KD) patients may remain clinically silent for decades and then thrombose resulting in myocardial infarction. Although KD is now the most common cause of acquired heart disease in children in Asia, the United States, and Western Europe, the incidence of KD in Egypt is unknown. We tested the hypothesis that young adults in Egypt presenting with acute myocardial ischemia may have ...

  17. Role of TGF-β signaling in remodeling of noncoronary artery aneurysms in kawasaki disease

    OpenAIRE

    Lee, AM; Shimizu, C.; Oharaseki, T; K. Takahashi; Daniels, LB; Kahn, A.; Adamson, R.; Dembitsky, W; Gordon, JB; Burns, JC

    2015-01-01

    © 2015 Society for Pediatric Pathology. Coronary artery aneurysms (CAA) remain an important complication of Kawasaki disease (KD), the most common form of pediatric acquired heart disease in developed countries. Potentially life-threatening CAA develop in 25% of untreated children and 5% of children treated with highdose intravenous immunoglobulin during the acute phase of the self-limited vasculitis. Noncoronary artery aneurysms (NCAA) in extraparenchymal, muscular arteries occur in aminorit...

  18. Role of TGF beta signaling in Remodeling of Non-Coronary Artery Aneurysms in Kawasaki disease /

    OpenAIRE

    Lee, Aaron Ming

    2014-01-01

    Coronary artery aneurysms remain a life-threatening complication of Kawasaki disease (KD), the most common form of pediatric acquired heart disease in developed countries (1). Potentially life-threatening coronary artery aneurysms (CAA) develop in 25% of untreated children and 5% of children treated with high dose intravenous immunoglobulin during the acute phase of the self-limited vasculitis (2). Non-coronary artery aneurysms (NCAA) in extra-parenchymal, muscular arteries occur in a minorit...

  19. Kawasaki Disease: Laboratory Findings and an Immunopathogenesis on the Premise of a "Protein Homeostasis System"

    OpenAIRE

    Lee, Kyung-Yil; Rhim, Jung-Woo; Kang, Jin-Han

    2012-01-01

    Kawasaki disease (KD) is a self-limited systemic inflammatory illness, and coronary artery lesions (CALs) are a major complication determining the prognosis of the disease. Epidemiologic studies in Asian children suggest that the etiologic agent(s) of KD may be associated with environmental changes. Laboratory findings are useful for the diagnosis of incomplete KD, and they can guide the next-step in treatment of initial intravenous immunoglobulin non-responders. CALs seem to develop in the e...

  20. Comparative effectiveness of intravenous immunoglobulin from different manufacturing processes on Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    Ming-Chih Lin[

    2014-01-01

    Background: The comparative effectiveness of intravenous immunoglobulin (IVIG) for Kawasaki disease was regarded as inconclusive in the international guidelines. However, several new evidences have been published in recent years. Data sources: A literature search of PubMed was conducted using key words of "Kawasaki disease or mucocutaneous lymph node syndrome" and "immunoglobulin" in combination. Only original articles published after 2004 were selected. A total of 813 papers were found in PubMed. These papers were screened manually by their titles and abstracts. Results: Patients treated with IVIG prepared by betapropiolactonation might have worse outcome (a higher non-responsive rate in one report and a higher rate of coronary aneurysm in two reports). Storage of IVIG in acidic solution might be correlated with a higher rate of coronary aneurysm (two reports). Conclusions: Different processes of preparation and conditions of preservation of IVIG may have profound effects on its clinical effectiveness. Randomized controlled studies are needed to further elucidate this issue.

  1. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients

    OpenAIRE

    Ying-Hsien Huang; Ho-Chang Kuo; Fu-Chen Huang; Hong-Ren Yu; Kai-Sheng Hsieh; Ya-Ling Yang; Jiunn-Ming Sheen; Sung-Chou Li; Hsing-Chun Kuo

    2016-01-01

    Kawasaki disease (KD) is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG) has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metab...

  2. Uveitis as an important ocular sign to help early diagnosis in Kawasaki disease

    OpenAIRE

    Choi, Han Seul; Lee, Seul Bee; Kwon, Jung Hyun; Kim, Hae Soon; Sohn, Sejung; Hong, Young Mi

    2015-01-01

    Purpose Incomplete Kawasaki disease (KD) is frequently associated with delayed diagnosis and treatment. Delayed diagnosis leads to increasing risk of coronary artery aneurysm. Anterior uveitis is an important ocular sign of KD. The purpose of this study was to assess differences in laboratory findings, including echocardiographic measurements, clinical characteristics such as fever duration and treatment responses between KD patients with and those without uveitis. Methods We conducted a pros...

  3. Genetic variants of glutamate receptor gene family in Taiwanese Kawasaki disease children with coronary artery aneurysms

    OpenAIRE

    Lin, Ying-Ju; Chang, Jeng-Sheng; Liu, Xiang(Research Center for Hadron and CSR Physics, Lanzhou University and Institute of Modern Physics of CAS, 730000, Lanzhou , China); Tsang, Hsinyi; Lin, Ting-Hsu; Liao, Chiu-Chu; Huang, Shao-Mei; Chien, Wen-Kuei; Chen, Jin-Hua; Wu, Jer-Yuarn; Chen, Chien-Hsiun; Chang, Li-Ching; Lin, Cheng-Wen; Ho, Tsung-Jung; Tsai, Fuu-Jen

    2014-01-01

    Background Patients with Kawasaki disease (KD), a pediatric systemic vasculitis, may develop coronary artery aneurysm (CAA) as a complication. To investigate the role of glutamate receptors in KD and its CAA development, we performed genetic association studies. Methods and results We examined the whole family of glutamate receptors by genetic association studies in a Taiwanese cohort of 262 KD patients. We identified glutamate receptor ionotropic, kainate 1 (GRIK1) as a novel susceptibility ...

  4. Risk Factors of Coronary Involvement in Kawasaki Disease in Recent Outbreak in South Iran, Shiraz.

    OpenAIRE

    Amoozgar, Hamid; Mohammadi, Hamid; Shakibazad, Nader

    2012-01-01

    Background: During the past year, Kawasaki disease (KD) had an outbreak with a high inci-dence of coronary involvement in Shiraz, Iran. This study focuses on risk factors and their correlation with aneurysm formation. Methods: All patients who were admitted with the diagnosis of KD in the pediatric units of Shiraz, Iran between 2009 and 2010 were included in this study. Data analysis was performed on demographic as well as clinical features, laboratory data, echocardiography, and electroca...

  5. Coronary artery abnormalities in Kawasaki disease - Comparison between CT and MR coronary angiography

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong Woo; Goo, Hyun Woo [Dept. of Radiology and Research Inst. of Radiology, Univ. of Ulsan Coll. of Medicine, Asan Medical Center, Seoul (Korea, Republic of)], e-mail: hwoogoo@amc.seoul.kr

    2013-03-15

    Background: Although CT coronary angiography (CTCA) and MR coronary angiography (MRCA) are increasingly used in patients with Kawasaki disease, comparison of coronary artery assessability and diagnostic performance between the two imaging modalities has been rarely performed. Purpose: To investigate which imaging modality, CTCA or MRCA, is better for evaluating coronary artery abnormalities in patients with Kawasaki disease. Material and Methods: Between 2003 and 2011, 56 patients (38 boys/men; age range, 1-24 years) with Kawasaki disease underwent CTCA or MRCA (group A). Of these, 17 underwent both CTCA and MRCA (group B). Visibility of 11 coronary arterial segments in each patient was graded on a four-point scale. Coronary artery aneurysm, stenosis, and occlusion were evaluated by CTCA and MRCA, based on a reference standard obtained from cardiac catheterization, echocardiography, follow-up CTCA and MRCA, and clinical history. Coronary artery assessability and diagnostic performance were compared between CTCA and MRCA. Results: In per-segment analysis, more segments were assessable on CTCA than on MRCA in both groups. In per-patient analysis of group B, no significant difference in the assessability was found between CTCA (95.0%, 128.3/135 segments) and MRCA (92.4%, 124.8/135 segments) (P > 0.05). Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of CTCA vs. MRCA were 93.1% vs. 77.9% (P < 0.001), 99.2% vs. 99.7% (P = 0.65), 96.8% vs. 98.7% (P = 0.65), 98.2% vs. 94.1% (P < 0.001), and 98.0% vs. 94.9% (P = 0.008), respectively, in group A, and 91.8% vs. 70.4% (P < 0.001), 99.5% vs. 99.5% (P = 1.000), 98.5% vs. 98.0% (P = 1.000), 97.2% vs. 91.1% (P = 0.006), and 97.6% vs. 92.3% (P = 0.004), respectively, in group B. Conclusion: Although CTCA and MRCA show comparable assessability in per-patient analysis, CTCA shows higher diagnostic performance than MRCA for evaluating coronary artery abnormalities in patients with Kawasaki

  6. Cardiopulmonary Function, Exercise Capacity, and Echocardiography Finding of Pediatric Patients With Kawasaki Disease

    OpenAIRE

    Tuan, Sheng-Hui; LI, Min-hui; Hsu, Miao-Ju; Tsai, Yun-Jeng; Chen, Yin-Han; Liao, Tin-Yun; Lin, Ko-Long

    2016-01-01

    Abstract Coronary artery (CA) abnormalities influence exercise capacity (EC) of patients with Kawasaki disease (KD), and Z-score of CA is a well established method for detecting CA aneurysm. We studied the influence of KD on cardiopulmonary function and EC; meanwhile we analyzed echocardiographic findings of KD patients. We also assessed the correlation between CA Z-score and EC of KD patients to see if CA Z-score of KD patients could reflect EC during exercise. Sixty-three KD patients were r...

  7. FCGR2A Promoter Methylation and Risks for Intravenous Immunoglobulin Treatment Responses in Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Ho-Chang Kuo

    2015-01-01

    Full Text Available Kawasaki disease (KD is characterized by pediatric systemic vasculitis of an unknown cause. The low affinity immunoglobulin gamma Fc region receptor II-a (FCGR2A gene was reported to be involved in the susceptibility of KD. DNA methylation is one of the epigenetic mechanisms that control gene expression; thus, we hypothesized that methylation status of CpG islands in FCGR2A promoter associates with the susceptibility and therapeutic outcomes of Kawasaki disease. In this study, 36 KD patients and 24 healthy subjects from out-patient clinic were recruited. Eleven potential methylation sites within the targeted promoter region of FCGR2A were selected for investigation. We marked the eleven methylation sites from A to K. Our results indicated that methylation at the CpG sites G, H, and J associated with the risk of KD. CpG sites B, C, E, F, H, J, and K were found to associate with the outcomes of IVIG treatment. In addition, CpG sites G, J, and K were predicted as transcription factors binding sites for NF-kB, Myc-Max, and SP2, respectively. Our study reported a significant association among the promoter methylation of FCGR2A, susceptibility of KD, and the therapeutic outcomes of IVIG treatment. The methylation levels of CpG sites of FCGR2A gene promoter should be an important marker for optimizing IVIG therapy.

  8. Hospitalisation with infection, asthma and allergy in Kawasaki disease patients and their families: genealogical analysis using linked population data.

    Directory of Open Access Journals (Sweden)

    Rebecca J Webster

    Full Text Available BACKGROUND: Kawasaki disease results from an abnormal immunological response to one or more infectious triggers. We hypothesised that heritable differences in immune responses in Kawasaki disease-affected children and their families would result in different epidemiological patterns of other immune-related conditions. We investigated whether hospitalisation for infection and asthma/allergy were different in Kawasaki disease-affected children and their relatives. METHODS/MAJOR FINDINGS: We used Western Australian population-linked health data from live births (1970-2006 to compare patterns of hospital admissions in Kawasaki disease cases, age- and sex-matched controls, and their relatives. There were 295 Kawasaki disease cases and 598 age- and sex-matched controls, with 1,636 and 3,780 relatives, respectively. Compared to controls, cases were more likely to have been admitted at least once with an infection (cases, 150 admissions (50.8% vs controls, 210 admissions (35.1%; odds ratio (OR = 1.9, 95% confidence interval (CI 1.4-2.6, P = 7.2×10⁻⁶, and with asthma/allergy (cases, 49 admissions (16.6% vs controls, 42 admissions (7.0%; OR = 2.6, 95% CI 1.7-4.2, P = 1.3×10⁻⁵. Cases also had more admissions per person with infection (cases, median 2 admissions, 95% CI 1-5, vs controls, median 1 admission, 95% CI 1-4, P = 1.09×10⁻⁵. The risk of admission with infection was higher in the first degree relatives of Kawasaki disease cases compared to those of controls, but the differences were not significant. CONCLUSION: Differences in the immune phenotype of children who develop Kawasaki disease may influence the severity of other immune-related conditions, with some similar patterns observed in relatives. These data suggest the influence of shared heritable factors in these families.

  9. Cardiac involvement in Kawasaki disease in Pakistani children

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    Saleem Akhtar

    2012-01-01

    Conclusions: A higher incidence of coronary artery involvement was found in our study. Presentation after 10 days of illness increases the risk of coronary artery involvement. High index of suspicion among the general pediatricians about the disease can possibly be helpful for early referral and treatment.

  10. Hemodynamic simulations in coronary aneurysms of a patient with Kawasaki Disease

    Science.gov (United States)

    Sengupta, Dibyendu; Marsden, Alison; Burns, Jane

    2010-11-01

    Kawasaki Disease is the leading cause of acquired pediatric heart disease, and can cause large coronary artery aneurysms in untreated cases. A simulation case study has been performed for a 10-year-old male patient with coronary aneurysms. Specialized coronary boundary conditions along with a lumped parameter heart model mimic the interactions between the ventricles and the coronary arteries, achieving physiologic pressure and flow waveforms. Results show persistent low shear stress in the aneurismal regions, and abnormally high shear at the aneurysm neck. Correlation functions have been derived to compare wall shear stress and wall shear stress gradients with recirculation time with the idea of localizing zones of calcification and thrombosis. Results are compared with those of an artificially created normal coronary geometry for the same patient. The long-term goal of this work is to develop links between hemodynamics and thrombotic risk to assist in clinical decision-making.

  11. Atypical anti-glomerular basement membrane disease

    OpenAIRE

    Troxell, Megan L.; Donald C Houghton

    2015-01-01

    Background Anti-glomerular basement membrane (anti-GBM) disease classically presents with aggressive necrotizing and crescentic glomerulonephritis, often with pulmonary hemorrhage. The pathologic hallmark is linear staining of GBMs for deposited immunoglobulin G (IgG), usually accompanied by serum autoantibodies to the collagen IV alpha-3 constituents of GBMs. Methods Renal pathology files were searched for cases with linear anti-GBM to identify cases with atypical or indolent course. Histopa...

  12. Bacillus Calmette-Guérin reactivation as a sign of incomplete Kawasaki disease.

    Science.gov (United States)

    Novais, Cristina; Fortunato, Fabiana; Bicho, Anabela; Preto, Luísa

    2016-01-01

    Kawasaki disease (KD) is an acute, self-limited, systemic vasculitis of unknown aetiology, extremely rare in infants younger than 6 months old. Younger infants are more likely to present with incomplete KD (IKD) and are at higher risk of developing coronary abnormalities. An early and specific clinical sign, not included in the classical diagnosis criteria, but that can be very useful in the diagnosis of KD, is the reaction at the Bacillus Calmette-Guérin (BCG) inoculation site. We describe a case of a 4-month-old boy, fully immunised, whose BCG scar reactivation led to the diagnosis of IKD. This case-report emphasises the importance of BCG site reactivation in establishing a diagnosis of IKD that clinicians should be aware of, especially in countries where BCG vaccination is still part of the immunisation schedule. PMID:27033285

  13. Fatal Kawasaki disease with incomplete criteria: Correlation between optical coherence tomography and pathology.

    Science.gov (United States)

    Dionne, Audrey; Kokta, Victor; Chami, Rose; Morissette, Geneviève; Dahdah, Nagib

    2015-12-01

    Coronary artery aneurysm is a serious complication of Kawasaki disease (KD). A 3-month-old infant presented with severe KD 27 days after onset of fever. The patient presented with shock, inferolateral ischemia on electrocardiogram and high troponin. Echocardiography showed severe myocardial dysfunction with diffuse coronary dilation and right coronary artery aneurysm. Arterial Doppler demonstrated thrombosis of aneurysmal axillary and iliac arteries. Withdrawal of support was implemented due to multi-organ failure. Post-mortem optical coherence tomography correlated with pathology. The pulmonary artery was normal on OCT and histology. Coronary arteries showed aneurysmal dilatation, with intimal hyperplasia and preserved media on OCT. Pathology confirmed these findings, with destruction of the internal elastic lamina, luminal myofibroblastic proliferation, neovascularization, and partial disappearance of the media. This is the first report of pathologic correlation in KD with OCT at the subacute stage, which adequately identified structural wall changes. PMID:26711918

  14. Adjunct cyclosporine therapy for refractory Kawasaki disease in a very young infant.

    Science.gov (United States)

    Okada, Seigo; Azuma, Yoshihiro; Suzuki, Yasuo; Yamada, Hiroko; Wakabayashi-Takahara, Midori; Korenaga, Yuno; Akase, Hideaki; Hasegawa, Shunji; Ohga, Shouichi

    2016-04-01

    Herein we describe the case of a 6-week-old boy who developed complete Kawasaki disease (KD). The cytokine profile and activation of monocytes and subsequent T cells matched the typical feature of refractory KD. The patient received a total of three courses of i.v. immunoglobulin (IVIG), but did not achieve clinical relief. Adjunctive therapy with oral cyclosporine A (CsA) led to prompt defervescence. This was continued for 7 days without serious adverse events. Coronary artery dilatations regressed within 3 months of follow up. KD infants aneurysm than the older ones. To our knowledge, oral CsA treatment has not been reported in such young infants with KD. The diagnosis and treatment of very young infants with KD are challenging. Adjunctive use of CsA in IVIG treatment could be effective for refractory KD in infants <3 months of age. PMID:26670024

  15. Kawasaki disease

    Science.gov (United States)

    ... mucous membranes in the mouth Strawberry tongue, white coating on the tongue, or visible red bumps on ... damage to the coronary arteries and heart. Intravenous gamma globulin is the standard treatment. It is given ...

  16. Identification of Novel Susceptibility Loci for Kawasaki Disease in a Han Chinese Population by a Genome-Wide Association Study

    OpenAIRE

    Tsai, Fuu-Jen; Lee, Yi-Ching; Chang, Jeng-Sheng; Huang, Li-Min; Huang, Fu-Yuan; Chiu, Nan-Chang; Chen, Ming-Ren; CHI, Hsin; Lee, Yann-Jinn; Chang, Li-Ching; Liu, Yi-Min; Wang, Hsiang-Hua; Chen, Chien-Hsiun; Chen, Yuan-Tsong; Wu, Jer-Yuarn

    2011-01-01

    Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS) in 250 KD patients and 446 controls in a Han Ch...

  17. Association between GRIN3A Gene Polymorphism in Kawasaki Disease and Coronary Artery Aneurysms in Taiwanese Children

    OpenAIRE

    Ying-Ju Lin; Jeng-Sheng Chang; Xiang Liu; Chien-Hui Hung; Ting-Hsu Lin; Shao-Mei Huang; Kuan-Teh Jeang; Chia-Yen Chen; Chiu-Chu Liao; Cheng-Wen Lin; Chih-Ho Lai; Ni Tien; Yu-Ching Lan; Mao-Wang Ho; Wen-Kuei Chien

    2013-01-01

    Kawasaki disease (KD) is pediatric systemic vasculitis with the classic complication of coronary artery aneurysm (CAA). It is the leading cause of acquired cardiovascular diseases in children. Some severe cases present with multi-organ involvement or neurological dysfunction. To identify the role of the glutamate receptor, ionotropic, N-methyl-d-aspartate 3A (GRIN3A) in KD, we investigated genetic variations in GRIN3A in a Taiwanese cohort of 262 KD patients (76 with and 186 without CAA compl...

  18. Atypical Celiac Disease: From Recognizing to Managing

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    B. Admou

    2012-01-01

    Full Text Available The nonclassic clinical presentation of celiac disease (CD becomes increasingly common in physician’s daily practice, which requires an awareness of its many clinical faces with atypical, silent, and latent forms. Besides the common genetic background (HLA DQ2/DQ8 of the disease, other non-HLA genes are now notably reported with a probable association to atypical forms. The availability of high-sensitive and specific serologic tests such as antitissue transglutuminase, antiendomysium, and more recent antideamidated, gliadin peptide antibodies permits to efficiently uncover a large portion of the submerged CD iceberg, including individuals having conditions associated with a high risk of developing CD (type 1 diabetes, autoimmune diseases, Down syndrome, family history of CD, etc., biologic abnormalities (iron deficiency anemia, abnormal transaminase levels, etc., and extraintestinal symptoms (short stature, neuropsychiatric disorders, alopecia, dental enamel hypoplasia, recurrent aphtous stomatitis, etc.. Despite the therapeutic alternatives currently in developing, the strict adherence to a GFD remains the only effective and safe therapy for CD.

  19. Crystalline-Like Keratopathy after Intravenous Immunoglobulin Therapy with Incomplete Kawasaki Disease: Case Report and Literature Review

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    Elif Erdem

    2013-01-01

    Full Text Available A 7-year-old girl had presented with high body temperature and joint pain which continued for 3 days. Because of the prolonged history of unexplained fever, rash, bilateral nonpurulent conjunctival injection, oropharyngeal erythema, strawberry tongue, and extreme of age, incomplete Kawasaki disease was considered and started on an intravenous immunoglobulin infusion. Six days after this treatment, patient was referred to eye clinic with decreased vision and photophobia. Visual acuity was reduced to 20/40 in both eyes. Slit-lamp examination revealed bilateral diffuse corneal punctate epitheliopathy and anterior stromal haze. Corneal epitheliopathy seemed like crystal deposits. One day after presentation, mild anterior uveitis was added to clinical picture. All ocular findings disappeared in one week with topical steroid and unpreserved artificial tear drops. We present a case who was diagnosed as incomplete Kawasaki disease along with bilateral diffuse crystalline-like keratopathy. We supposed that unusual ocular presentation may be associated with intravenous immunoglobulin treatment.

  20. Doença de Kawasaki: experiência clínica em hospital universitário Kawasaki disease: clinical experience in a university hospital

    OpenAIRE

    Angela Esposito Ferronato; Selma Betta Ragazzi; Maki Hirose; Débora Morais Cardoso; Alfredo Elias Gilio

    2010-01-01

    OBJETIVO: A doença de Kawasaki é uma vasculite sistêmica aguda de etiologia desconhecida. Seu diagnóstico baseia-se em critérios clínicos. O objetivo deste estudo foi descrever os casos de pacientes com doença de Kawasaki internados no Hospital Universitário da Universidade de São Paulo entre janeiro/2000 e junho/2008. MÉTODOS: Dentre todos os pacientes internados na Enfermaria de Pediatria no período acima, foram selecionados aqueles cujo CID de alta foi doença de Kawasaki. Realizou-se estud...

  1. Usefulness of natriuretic peptide for the diagnosis of Kawasaki disease: a systematic review and meta-analysis

    OpenAIRE

    Lin, Kuan-Ho; Chang, Shy-Shin; Yu, Chin-Wei; LIN, SHEN-CHE; Liu, Shu-Chun; Chao, Hsiao-yun; Lee, Meng-Tse Gabriel; Wu, Jiunn-Yih; Lee, Chien-Chang

    2015-01-01

    Objective To examine the diagnostic value of serum B-type natriuretic peptide (BNP) in acute Kawasaki disease (KD). Design Systematic review and meta-analysis. Data sources A systematic literature search strategy was designed and carried out using MEDLINE, EMBASE and the Cochrane Library from inception to December 2013. We also performed manual screening of the bibliographies of primary studies and review articles, and contacted authors for additional data. Study eligibility criteria We inclu...

  2. Giant coronary aneurysm caused by Kawasaki disease: consistency between catheter angiography and electrocardiogram gated dual-source computed tomography angiography.

    Science.gov (United States)

    Hwang, Eun-Ha; Ju, Jung-Ki; Cho, Min-Jung; Lee, Ji-Won; Lee, Hyoung-Doo

    2015-12-01

    We present the case of a 5-year-old child with coronary complications due to Kawasaki disease; this patient unintentionally underwent both dual-source computed tomography (DSCT) coronary angiography and invasive coronary angiographic examination in 2 months. This case highlights the strong consistency of the results between DSCT coronary angiography and invasive coronary angiography. Compared to conventional invasive coronary angiography, DSCT coronary angiography offered additional advantages such as minimal invasiveness and less radiation exposure. PMID:26770226

  3. Combination Thrombolytic and Anti-Platelet Therapies in an Infant with Incomplete Kawasaki Disease and Coronary Aneurysms

    OpenAIRE

    Johnson, Peter N.; Kuhn, Robert J.

    2008-01-01

    A 3-month-old infant was transferred to our facility with persistent fever and concerns for septic shock. A 2-D echocardiogram revealed multiple coronary aneurysms and axillary and coronary artery thrombi, and a diagnosis of incomplete Kawasaki disease (KD) was established. Aggressive therapies including intravenous immunoglobulins, enoxaparin, abciximab, aspirin, and alteplase were used to decrease the size of the coronary aneurysms and inhibit further thrombus formation. After minimal chang...

  4. Giant coronary aneurysm caused by Kawasaki disease: consistency between catheter angiography and electrocardiogram gated dual-source computed tomography angiography

    OpenAIRE

    Hwang, Eun-Ha; Ju, Jung-Ki; Cho, Min-Jung; Lee, Ji-Won; Lee, Hyoung-Doo

    2015-01-01

    We present the case of a 5-year-old child with coronary complications due to Kawasaki disease; this patient unintentionally underwent both dual-source computed tomography (DSCT) coronary angiography and invasive coronary angiographic examination in 2 months. This case highlights the strong consistency of the results between DSCT coronary angiography and invasive coronary angiography. Compared to conventional invasive coronary angiography, DSCT coronary angiography offered additional advantage...

  5. Galectin-3 is a marker of myocardial and vascular fibrosis in Kawasaki disease patients with giant aneurysms

    OpenAIRE

    Numano, F; Shimizu, C.; Jimenez-Fernandez, S; Vejar, M; Oharaseki, T; K. Takahashi; Salgado, A; Tremoulet, AH; Gordon, JB; Burns, JC; Daniels, LB

    2015-01-01

    © 2015 Elsevier Ireland Ltd. Backgrounds Galectin-3 (Gal-3) is a multifunctional matricellular protein associated with heart failure and cardiovascular events. Gal-3 is required for transforming growth factor-β pathway-mediated myofibroblast activation that is a key process in coronary artery aneurysm formation in Kawasaki Disease (KD). Autopsies from young adults late after KD onset (AKD) have demonstrated bridging fibrosis throughout the myocardium and arteries. In this study, we postulated...

  6. Characterization of the gut microbiota of Kawasaki disease patients by metagenomic analysis

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    Akiko eKinumaki

    2015-08-01

    Full Text Available Kawasaki disease (KD is an acute febrile illness of early childhood. Previous reports have suggested that genetic disease susceptibility factors, together with a triggering infectious agent, could be involved in KD pathogenesis; however, the precise etiology of this disease remains unknown. Additionally, previous culture-based studies have suggested a possible role of intestinal microbiota in KD pathogenesis. In this study, we performed metagenomic analysis to comprehensively assess the longitudinal variation in the intestinal microbiota of twenty-eight KD patients. Several notable bacterial genera were commonly extracted during the acute phase, whereas a relative increase in the number of Ruminococcus bacteria was observed during the non-acute phase of KD. The metagenomic analysis results based on bacterial species classification suggested that the number of sequencing reads with similarity to five Streptococcus spp. (S. pneumonia, pseudopneumoniae, oralis, gordonii, and sanguinis, in addition to patient-derived Streptococcus isolates, markedly increased during the acute phase in most patients. Streptococci include a variety of pathogenic bacteria and probiotic bacteria that promote human health; therefore, this further species discrimination could comprehensively illuminate the KD-associated microbiota. The findings of this study suggest that KD-related Streptococci might be involved in the pathogenesis of this disease.

  7. Seven-year national survey of Kawasaki disease and acute rheumatic fever.

    Science.gov (United States)

    Taubert, K A; Rowley, A H; Shulman, S T

    1994-08-01

    To assess the frequency of hospital encoded diagnoses of acute rheumatic fever (ARF) and Kawasaki disease (KD), the two leading causes of acquired heart disease in children in the United States, we performed a survey of the medical record departments of United States children's hospitals and of general hospitals that have at least 400 beds and a pediatric ward. With a simple questionnaire, data were gathered for the years 1984 through 1990 by ICD.9CM codes, with a 58% response rate. About 8000 diagnoses of KD and 6000 diagnoses of ARF were encoded during the study period. Encoded diagnoses of both KD and ARF showed yearly fluctuations in the earlier years (1984 through 1987). For KD there was a general trend toward increasing numbers after 1986. These data are consistent with increased physician awareness and diagnosis of KD. For ARF a gradual decline was observed between 1986 and 1990. About 80% of ARF diagnoses were reported from general hospitals. The much smaller pool of encoded diagnoses of ARF at the children's hospitals showed a 56% increase from 1985 to 1986. These data suggest that the highly publicized increase in cases of acute rheumatic fever in the United States during the mid-1980s may reflect focal rather than nationwide increased activity and that nationally the number of diagnoses of ARF actually may have continued to decline gradually from 1984 through 1990. PMID:7970970

  8. Adolescent Kawasaki disease: usefulness of 64-slice CT coronary angiography for follow-up investigation

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    Carbone, Iacopo; Cannata, David; Algeri, Emanuela; Galea, Nicola; Napoli, Alessandro; Catalano, Carlo; Passariello, Roberto; Francone, Marco [Sapienza University of Rome, Department of Radiological, Onchological and Anatomopathological Sciences, Policlinico Umberto I, Rome (Italy); De Zorzi, Andrea [Bambino Gesu Hospital, Cardiology Division, Rome (Italy); Bosco, Giovanna; D' Agostino, Rita [Sapienza University of Rome, Unit of Paediatric Cardiology, Policlinico Umberto I, Rome (Italy); Menezes, Leon [University College of London, Institute of Nuclear Medicine, London (United Kingdom)

    2011-09-15

    Kawasaki disease (KD) is a systemic vasculitis that mainly affects coronary arteries in children, and requires regular follow-up from the time of diagnosis. To evaluate the feasibility of 64-slice CT angiography (CTA) for follow-up of patients with KD using previously performed invasive catheter coronary angiography (CCA) as reference standard. The study group comprised 12 patients (age 17.6 {+-} 2.9 years, mean{+-}SD) with a diagnosis of KD and a previously performed CCA (interval, 32.6 {+-} 13.5 months) who underwent 64-slice cardiac CTA. The quality of the images for establishing the presence of coronary abnormalities was determined by two observers. The CTA findings were compared with those from the prior CCA. Adequate image quality was obtained in all patients. Mean effective dose for CTA was 6.56 {+-} 0.95 mSv. CTA allowed accurate identification, characterization and measurement of all coronary aneurysms (n = 32), stenoses (n = 3) and occlusions (n = 9) previously demonstrated by CCA. One patient with disease progression went on to have percutaneous coronary intervention. Coronary lesions were reliably evaluated by 64-slice CTA in the follow-up of compliant patients with KD, reducing the need for repeated diagnostic invasive CCA. Hence, in an adequately selected patient population, the role of CCA could be limited almost only to therapeutic procedures. (orig.)

  9. Acute myocardial ischemia in adults secondary to missed Kawasaki disease in childhood.

    Science.gov (United States)

    Rizk, Sherif R Y; El Said, Galal; Daniels, Lori B; Burns, Jane C; El Said, Howaida; Sorour, Khaled A; Gharib, Soliman; Gordon, John B

    2015-02-15

    Coronary artery aneurysms that occur in 25% of untreated Kawasaki disease (KD) patients may remain clinically silent for decades and then thrombose resulting in myocardial infarction. Although KD is now the most common cause of acquired heart disease in children in Asia, the United States, and Western Europe, the incidence of KD in Egypt is unknown. We tested the hypothesis that young adults in Egypt presenting with acute myocardial ischemia may have coronary artery lesions because of KD in childhood. We reviewed a total of 580 angiograms of patients ≤40 years presenting with symptoms of myocardial ischemia. Coronary artery aneurysms were noted in 46 patients (7.9%), of whom 9 presented with myocardial infarction. The likelihood of antecedent KD as the cause of the aneurysms was classified as definite (n = 10), probable (n = 29), or equivocal (n = 7). Compared with the definite and probable groups, the equivocal group had more traditional cardiovascular risk factors, smaller sized aneurysms, and fewer coronary arteries affected. In conclusion, in a major metropolitan center in Egypt, 6.7% of adults aged ≤40 years who underwent angiography for evaluation of possible myocardial ischemia had lesions consistent with antecedent KD. Because of the unique therapeutic challenges associated with these lesions, adult cardiologists should be aware that coronary artery aneurysms in young adults may be because of missed KD in childhood. PMID:25555655

  10. Association of the Resistin Gene Promoter Region Polymorphism with Kawasaki Disease in Chinese Children

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    Ruixi Liu

    2012-01-01

    Full Text Available Objectives. The −420C>G polymorphism located in the resistin gene (RETN promoter has recently been suggested to play a potential role in proinflammatory conditions and cardiovascular disease. This study investigated the association of the RETN promoter polymorphism with Kawasaki disease (KD and its clinical parameters in Chinese children. Methods. We compared patients with complete KD to incomplete KD children. Genotyping of the RETN promoter polymorphism was performed using MassARRAY system, and serum resistin levels were estimated using the sandwich enzyme immunoassay method. Results. There was no significant difference in RETN (−420C>G genotypes between KD and control groups. However, the frequency of the G allele was higher in iKD patients than in cKD children due to a significantly increased frequency of the GG genotypes. Serum levels of resistin were significantly higher in KD patients than in controls regardless of the presence of coronary artery lesions (CALs. Conclusion. The present findings suggest that while resistin may play a role in the pathogenesis of KD, there is no apparent association between CAL and the RETN (−420C>G gene polymorphism in KD children. However, the diagnosis of iKD is challenging but can be supported by the presence of the G allele and the GG genotypes.

  11. Assessment Of Coronary Artery Aneurysms Using Transluminal Attenuation Gradient And Computational Modeling In Kawasaki Disease Patients

    Science.gov (United States)

    Grande Gutierrez, Noelia; Kahn, Andrew; Shirinsky, Olga; Gagarina, Nina; Lyskina, Galina; Fukazawa, Ryuji; Owaga, Shunichi; Burns, Jane; Marsden, Alison

    2015-11-01

    Kawasaki Disease (KD) can result in coronary artery aneurysms (CAA) in up to 25% of patients, putting them at risk of thrombus formation, myocardial infarction and sudden death. Clinical guidelines recommend CAA diameter >8 mm as the arbitrary criterion for initiating systemic anticoagulation. KD patient specific modeling and flow simulations suggest that hemodynamic data can predict regions at increased risk of thrombosis. Transluminal Attenuation Gradient (TAG) is determined from the change in radiological attenuation per vessel length and has been proposed as a non-invasive method for characterizing coronary stenosis from CT Angiography. We hypothesized that CAA abnormal flow could be quantified using TAG. We computed hemodynamics for patient specific coronary models using a stabilized finite element method, coupled numerically to a lumped parameter network to model the heart and vascular boundary conditions. TAG was quantified in the major coronary arteries. We compared TAG for aneurysmal and normal arteries and we analyzed TAG correlation with hemodynamic and geometrical parameters. Our results suggest that TAG may provide hemodynamic data not available from anatomy alone. TAG represents a possible extension to standard CTA that could help to better evaluate the risk of thrombus formation in KD.

  12. Transluminal Attenuation Gradient for Thrombotic Risk Assessment in Kawasaki Disease Patients with Coronary Artery Aneurysms

    Science.gov (United States)

    Grande Gutierrez, Noelia; Kahn, Andrew; Burns, Jane; Marsden, Alison

    2014-11-01

    Kawasaki Disease (KD) can result in coronary aneurysms in up to 25% of patients if not treated early putting patients at risk of thrombus formation, myocardial infarction and sudden death. Clinical guidelines for administering anti-coagulation therapy currently rely on anatomy alone. Previous studies including patient specific modeling and computer simulations in KD patients have suggested that hemodynamic data can predict regions susceptible to thrombus formation. In particular, high Particle Residence Time gradient (PRTg) regions have shown to correlate with regions of thrombus formation. Transluminal Attenuation Gradient (TAG) is determined from the change in radiological attenuation per vessel length. TAG has been used for characterizing coronary artery stenoses, however this approach has not yet been used in aneurysmal vessels. The aim of this study is to analyze the correlation between TAG and PRTg in KD patients with aneurysms and evaluate the use of TAG as an index to quantify thrombotic risk. Patient specific anatomic models for fluids simulations were constructed from CT angiographic image data from 3 KD aneurysm patients and one normal control. TAG values for the aneurysm patients were markedly lower than for the non-aneurysmal patient (mean -18.38 vs. -2). In addition, TAG values were compared to PRTg obtained for each patient. Thrombotic risk stratification for KD aneurysms may be improved by incorporating TAG and should be evaluated in future prospective studies.

  13. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients.

    Science.gov (United States)

    Huang, Ying-Hsien; Kuo, Ho-Chang; Huang, Fu-Chen; Yu, Hong-Ren; Hsieh, Kai-Sheng; Yang, Ya-Ling; Sheen, Jiunn-Ming; Li, Sung-Chou; Kuo, Hsing-Chun

    2016-01-01

    Kawasaki disease (KD) is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG) has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metabolism during different stages of KD. A total of 100 patients with KD and 20 control subjects were enrolled in this study for red blood cell and hemoglobin analysis. Furthermore, plasma, urine hepcidin, and plasma IL-6 levels were evaluated using enzyme-linked immunosorbent assay in 20 KD patients and controls. Changes in hemoglobin, plasma iron levels, and total iron binding capacity (TIBC) were also measured in patients with KD. Hemoglobin, iron levels, and TIBC were lower (p hepcidin levels (both p hepcidin levels were positively and significantly correlated with urine hepcidin levels (p hepcidin and hemoglobin levels significantly decreased (both p hepcidin induces transient anemia and hypoferremia during KD's acute inflammatory phase. PMID:27187366

  14. Chest X-ray findings in the acute phase of Kawasaki disease

    International Nuclear Information System (INIS)

    We reviewed the chest X-ray (CXR) findings and clinical courses of 129 patients with Kawasaki disease and found abnormal CXR findings in 14.7% of the patients. Reticulogranular pattern was the most frequent abnormality (89.5%), while peribronchial cuffing (21.1%), pleural effusion (15.8%), atelectasis (10.5%) and air trapping (5.3%) were also seen. In each of these patients, CXR abnormalities appeared within 10 days after the onset of illness. In the group with abnormal CXR findings, a statistically significant increase was noted in duration of fever, incidence of adventitious sounds, serum CPR levels and incidence of coronary arterial lesions and pericardial effusion, as compared with the group having normal CXR findings. The pathological basis of these CXR changes is not clear, since no biopsy or autopsy specimen was obtained from these patients. Since none of these patients showed definite heart failure, it is difficult to consider that abnormal CXR findings were due to heart failure. On the other hand, physical signs and previous pathological reports suggested that the causes of abnormal CXR findings were lower respiratory tract inflammation and/or pulmonary arteritis. (orig.)

  15. Endothelial progenitor cell transplantation ameliorates elastin breakdown in a Kawasaki disease mouse model

    Institute of Scientific and Technical Information of China (English)

    CHEN Zhi; DU Zhong-dong; LIU Jun-feng; LU Dun-xiang; LI Li; GUAN Yun-qian; WAN Sui-gui

    2012-01-01

    Background Coronary artery damage from Kawasaki disease (KD) is closely linked to the dysfunction of endothelial progenitor cells (EPCs).The aim of the present study was to evaluate the therapeutic effect of EPCs transplantation in KD model.Methods Lactobacillus casei cell wall extract (LCWE)-induced KD model in C57BL/6 mice was established.The model mice were injected intravenously with bone marrow-derived in vitro expanded EPCs.Histological evaluation,number of circulating EPCs and the function of bone marrow EPCs were examined at day 56.Results Inflammation was found around the coronary artery of the model mice after 14 days,Elastin breakdown was observed after 56 days.CM-Dil labeled EPCs incorporated into vessel repairing foci was found.At day 56,the number of peripheral EPCs in the KD model group was lower than in EPCs transplanted and control group.The functional index of bone marrow EPCs from the KD model group decreased in proliferation,adhesion and migration.Increased number of circulating EPCs and improved function were observed on the EPCs transplanted group compared with model group.Conclusion Exogenously administered EPCs,which represent a novel strategy could prevent the dysfunction of EPCs,accelerate the repair of coronary artery endothelium lesion and decrease the occurrence of aneurysm.

  16. The Validity of a Scoring System in Predicting Intravenous Immunoglobulin Treatment Failure in Children With Kawasaki Disease

    Directory of Open Access Journals (Sweden)

    Nateghian

    2015-12-01

    Full Text Available Background Between 10 and 20% of children with Kawasaki disease (KD will not respond to intravenous immunoglobulin (IVIG treatment, and are prone to coronary abnormalities. A variety of predicting scoring systems, including the Kobayashi system, have been proposed, but have not yet been evaluated using Iranian patients. Objectives To evaluate the Kobayashi scoring system with regard to predicting response to IVIG treatment in Iranian children. Patients and Methods All patients who received a final diagnosis of KD at Aliasghar children’s hospital between 1982 and 2013, and who met the inclusion criteria, were enrolled in this retrospective cohort study. We excluded patients with missing data, abnormal echocardiographic finding on admission, late admission, atypical or afebrile cases, and those who had received an insufficient amount of IVIG. We compared demographic and echocardiographic data before IVIG, and within 7 days of treatment, as well as C reactive protein (CRP, sodium, aspartate aminotransferase, platelet levels, neutrophil percentage, age of patients, and duration of fever before IVIG administration, in treatment responders and non-responders. Results Of the 141 cases, 97 patients met the criteria and were enrolled. Of these, 19 (19.6% did not respond to IVIG. A total of 61.8% of patients were male, and the mean patient age was 36.9 months (SD = 32.1 months. Echocardiographic evaluation revealed early coronary involvement in 15.3% of patients, and coronary abnormalities were diagnosed in 10% of patients within the first 10 days of presentation and concurrent with their IVIG treatment. A between-groups comparison of quantitative CRP, absolute neutrophil count, and platelet count showed that platelet count alone was significantly higher in nonresponders (P = 0.04. With regard to items of Kobayashi scoring system, data were present for just 41 cases, but a significant difference between the two groups was shown, with the treatment

  17. Endothelial progenitor cell down-regulation in a mouse model of Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    LIU Jun-feng; DU Zhong-dong; CHEN Zhi; LU Dun-xiang; LI Li; GUAN Yun-qian; WAN Sui-gui

    2012-01-01

    Background Cardiovascular complications of Kawasaki disease (KD) are a common cause of heart disease in pediatric populations.Previous studies have suggested a role for endothelial progenitor cells (EPCs) in coronary artery lesions associated with KD.However,long-term observations of EPCs during the natural progression of this disorder are lacking.Using an experimental model of KD,we aimed to determine whether the coronary artery lesions are associated with down-regulation of EPCs.Methods To induce KD,C57BL/6 mice were administered an intraperitoneal injection of Lactobacillus casei cell wall extract (LCWE; phosphate buffered saline used as control vehicle).Study groups included:group A (14 days following LCWE injection),group B (56 days following LCWE injection) and group C (controls).Numbers of circulating EPCs (positively staining for both CD34 and FIk-1 while staining negative for CD45) were evaluated using flow cytometry.Bone marrow mononuclear cells were cultured in vitro to expand EPCs for functional analysis.In vitro EPC proliferation,adhesion and migration were assessed.Results The model was shown to exhibit similar coronary artery lesions to KD patients with coronary aneurysms.Numbers of circulating EPCs decreased significantly in the KD models (groups A and B) compared to controls ((0.017±0.008)% VS.(0.028±0.007)%,P<0.05 and (0.016±0.007)% vs.(0.028±0.007)%,P <0.05).Proliferative,adhesive and migratory properties of EPCs were markedly impaired in groups A and B.Conclusion Coronary artery lesions in KD occur as a consequence of impaired vascular injury repair,resulting from excess consumption of EPCs together with a functional impairment of bone marrow EPCs and their precursors.

  18. Detection Rate and Clinical Impact of Respiratory Viruses in Children with Kawasaki Disease

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    Ja Hye Kim

    2012-12-01

    Full Text Available &lt;B&gt;Purpose:&lt;/B&gt; The purpose of this prospective case-control study was to survey the detection rate of respiratory viruses in children with Kawasaki disease (KD by using multiplex reverse transcriptasepolymerase chain reaction (RT-PCR, and to investigate the clinical implications of the prevalence of respiratory viruses during the acute phase of KD. &lt;B&gt;Methods:&lt;/B&gt; RT-PCR assays were carried out to screen for the presence of respiratory syncytial virus A and B, adenovirus, rhinovirus, parainfluenza viruses 1 to 4, influenza virus A and B, metapneumovirus, bocavirus, coronavirus OC43/229E and NL63, and enterovirus in nasopharyngeal secretions of 55 KD patients and 78 control subjects. &lt;B&gt;Results:&lt;/B&gt; Virus detection rates in KD patients and control subjects were 32.7% and 30.8%, respectively (P=0.811. However, there was no significant association between the presence of any of the 15 viruses and the incidence of KD. Comparisons between the 18 patients with positive RT-PCR results and the other 37 KD patients revealed no significant differences in terms of clinical findings (including the prevalence of incomplete presentation of the disease and coronary artery diameter. &lt;B&gt;Conclusion:&lt;/B&gt; A positive RT-PCR for currently epidemic respiratory viruses should not be used as an evidence against the diagnosis of KD. These viruses were not associated with the incomplete presentation of KD and coronary artery dilatation.

  19. Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

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    Yu Mi Choi

    2012-01-01

    Full Text Available Purpose : Transforming growth factor beta receptor 2 (TGFBR2 is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the TGFBR2 gene SNPs are related to the pathogenesis of Kawasaki disease (KD and coronary artery lesion (CAL. Methods : The subjects were 105 patients with KD and 500 healthy adults as controls. Mean age of KD group was 32 months age and 26.6% of those had CAL. We selected TGFBR2 gene SNPs from serum and performed direct sequencing. Results : The sequences of the eleven SNPs in the TGFBR2 gene were compared between the KD group and controls. Three SNPs (rs1495592, rs6550004, rs795430 were associated with development of KD (P=0.019, P=0.026, P=0.016, respectively. One SNP (rs1495592 was associated with CAL in KD group (P=0.022. Conclusion : Eleven SNPs in TGFBR2 gene were identified at that time the genome wide association. But, with the change of the data base, only six SNPs remained associated with the TGFBR2 gene. One of the six SNPs (rs6550004 was associated with development of KD. One SNP associated with CAL (rs1495592 was disassociated from the TGFBR2 gene. The other five SNPs were not functionally identified, but these SNPs are notable because the data base is changing. Further studies involving larger group of patients with KD are needed.

  20. Kawasaki Disease With Giant Coronary Aneurysms Requiring a Ventricular Assist Device to Separate From Extracorporeal Membrane Oxygenation: Coronary Issues Can Be a Pediatric Problem Too!

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    Adler, Adam C; Kodavatiganti, Ramesh

    2016-08-15

    Kawasaki disease, although common in children, may rarely affect the coronary arteries, leading to aneurysm formation and potential for coronary thrombus formation. Extremely rarely, coronary aneurysms from Kawasaki disease can thrombose, resulting in ischemic myocardium. We present a case of a 31-month-old patient requiring a left ventricular assist device after thrombosis of giant coronary aneurysms led to ischemic cardiomyopathy. At the termination of the surgical procedure, we encountered 2 periods of ventricular assist device dropout requiring intervention. With the increase in the number of pediatric patients with assist devices, we review the basic care for a patient requiring emergent surgery. PMID:27310902

  1. Systematic Confirmation Study of GWAS-Identified Genetic Variants for Kawasaki Disease in A Chinese Population

    Science.gov (United States)

    Lou, Jiao; Zhong, Rong; Shen, Na; Lu, Xu-zai; Ke, Jun-tao; Duan, Jia-yu; Qi, Yan-qi; Wang, Yu-jia; Zhang, Qing; Wang, Wei; Gong, Fang-qi; Miao, Xiao-ping

    2015-01-01

    Genome-wide association studies (GWASs) have identified multiple single nucleotide polymorphisms (SNPs) associated with Kawasaki disease (KD). In this study, we replicated the associations of 10 GWAS-identified SNPs with KD in a Han Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression, and cumulative effect of non-risk genotypes were also performed. Although none of the SNPs reached the corrected significance level, 4 SNPs showed nominal associations with KD risk. Compared with their respective wild type counterparts, rs1801274 AG+GG genotypes and rs3818298 TC+CC genotypes were nominally associated with the reduced risk of KD (OR = 0.77, 95% CI = 0.59–0.99, P = 0.045; OR = 0.74, 95% CI = 0.56–0.98, P = 0.038). Meanwhile, rs1801274 GG genotype, rs2736340 CC genotype or rs4813003 TT genotype showed a reduced risk trend (OR = 0.57, 95% CI = 0.35–0.93, P = 0.024; OR = 0.46, 95% CI = 0.26–0.83, P = 0.010; OR = 0.64, 95% CI = 0.43–0.94, P = 0.022), compared with rs1801274 AG+AA genotypes, rs2736340 CT+TT genotypes or rs4813003 TC+CC genotypes, respectively. Furthermore, a cumulative effect was observed with the ORs being gradually decreased with the increasing accumulative number of non-risk genotypes (Ptrend<0.001). In conclusion, our study suggests that 4 GWAS-identified SNPs, rs2736340, rs4813003, rs3818298 and rs1801274, were nominally associated with KD risk in a Han Chinese population individually and jointly. PMID:25645453

  2. A Novel Truncated Form of Serum Amyloid A in Kawasaki Disease.

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    John C Whitin

    Full Text Available Kawasaki disease (KD is an acute vasculitis in children that can cause coronary artery abnormalities. Its diagnosis is challenging, and many cytokines, chemokines, acute phase reactants, and growth factors have failed evaluation as specific biomarkers to distinguish KD from other febrile illnesses. We performed protein profiling, comparing plasma from children with KD with febrile control (FC subjects to determine if there were specific proteins or peptides that could distinguish the two clinical states.Plasma from three independent cohorts from the blood of 68 KD and 61 FC subjects was fractionated by anion exchange chromatography, followed by surface-enhanced laser desorption ionization (SELDI mass spectrometry of the fractions. The mass spectra of KD and FC plasma samples were analyzed for peaks that were statistically significantly different.A mass spectrometry peak with a mass of 7,860 Da had high intensity in acute KD subjects compared to subacute KD (p = 0.0003 and FC (p = 7.9 x 10-10 subjects. We identified this peak as a novel truncated form of serum amyloid A with N-terminal at Lys-34 of the circulating form and validated its identity using a hybrid mass spectrum immunoassay technique. The truncated form of serum amyloid A was present in plasma of KD subjects when blood was collected in tubes containing protease inhibitors. This peak disappeared when the patients were examined after their symptoms resolved. Intensities of this peptide did not correlate with KD-associated laboratory values or with other mass spectrum peaks from the plasma of these KD subjects.Using SELDI mass spectrometry, we have discovered a novel truncated form of serum amyloid A that is elevated in the plasma of KD when compared with FC subjects. Future studies will evaluate its relevance as a diagnostic biomarker and its potential role in the pathophysiology of KD.

  3. Does Vitamin C improve endothelial function in patients with Kawasaki disease?

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    Mohammad Reza Sabri

    2015-01-01

    Full Text Available Background: Improvement of endothelial dysfunction could prevent or delay the occurrence of the atherosclerosis process in patients with Kawasaki disease (KD. It is suggested that Vitamin C could improve endothelial dysfunction. In this study, we investigated whether administration of Vitamin C as a water-soluble antioxidant could be effective in this regard among patients with KD. Materials and Methods: In this case control analytic-experimental study, children aged 3-18 years with KD, and a group of healthy children evaluated. Vitamin C (250 mg/daily administrated for the two studied groups for 1 month. Endothelial function evaluated by flow-mediated dilatation (FMD and intima-media thickness (IMT measurement using vascular Doppler ultrasonography, before and after trial. Results: In this study, 16 patients with KD and 19 normal children were studied. At baseline mean of IMT and FMD was not different in the two studied groups (P > 0.05. After Vitamin C administration IMT decreased significantly in two studied groups (from 27.06 ± 6.27 to 21.56 ± 3.77 in KD group and from 27.66 ± 5.66 to 23.33 ± 3.66 in control group [P < 0.05]. FMD increased in two studied groups, but the difference was significant in the control group (from 6.84 ± 2.51 to 7.03 ± 2.87 in KD group and from 6.53 ± 2.36 to 7.82 ± 2.14 in the control group. Conclusion: Vitamin C might improve the endothelial function of patients with KD.

  4. Urinary Colorimetric Sensor Array and Algorithm to Distinguish Kawasaki Disease from Other Febrile Illnesses

    Science.gov (United States)

    Jin, Bo; Deng, Xiaohong; Hu, Guang; Liu, Xiaodan; Zhang, Jie; Jin, Hua; Huang, Min; Kanegaye, John T.; Tremoulet, Adriana H.; Burns, Jane C.; Wu, Jianmin; Cohen, Harvey J.; Ling, Xuefeng B.

    2016-01-01

    Objectives Kawasaki disease (KD) is an acute pediatric vasculitis of infants and young children with unknown etiology and no specific laboratory-based test to identify. A specific molecular diagnostic test is urgently needed to support the clinical decision of proper medical intervention, preventing subsequent complications of coronary artery aneurysms. We used a simple and low-cost colorimetric sensor array to address the lack of a specific diagnostic test to differentiate KD from febrile control (FC) patients with similar rash/fever illnesses. Study Design Demographic and clinical data were prospectively collected for subjects with KD and FCs under standard protocol. After screening using a genetic algorithm, eleven compounds including metalloporphyrins, pH indicators, redox indicators and solvatochromic dye categories, were selected from our chromatic compound library (n = 190) to construct a colorimetric sensor array for diagnosing KD. Quantitative color difference analysis led to a decision-tree-based KD diagnostic algorithm. Results This KD sensing array allowed the identification of 94% of KD subjects (receiver operating characteristic [ROC] area under the curve [AUC] 0.981) in the training set (33 KD, 33 FC) and 94% of KD subjects (ROC AUC: 0.873) in the testing set (16 KD, 17 FC). Color difference maps reconstructed from the digital images of the sensing compounds demonstrated distinctive patterns differentiating KD from FC patients. Conclusions The colorimetric sensor array, composed of common used chemical compounds, is an easily accessible, low-cost method to realize the discrimination of subjects with KD from other febrile illness. PMID:26859297

  5. Pulmonary Artery Dilation and Right Ventricular Function in Acute Kawasaki Disease.

    Science.gov (United States)

    Numano, Fujito; Shimizu, Chisato; Tremoulet, Adriana H; Dyar, Dan; Burns, Jane C; Printz, Beth F

    2016-03-01

    Coronary artery inflammation and aneurysm formation are the most common complications of Kawasaki disease (KD). Valvulitis and myocarditis are also well described and may lead to valvar regurgitation and left ventricular dysfunction. However, functional changes in the right heart have rarely been reported. We noted several acute KD patients with dilated pulmonary arteries (PA) and thus sought to systematically characterize PA size and right-heart function in an unselected cohort of KD patients cared for at a single clinical center. Clinical, laboratory, and echocardiographic data from 143 acute KD subjects were analyzed. PA dilation was documented in 23 subjects (16.1 %); these subjects had higher median right ventricle myocardial performance index (RV MPI), higher ratio of early tricuspid inflow velocity to tricuspid annular early diastolic velocity (TV E/e'), and lower median TV e' velocity compared to the non-PA dilation group (0.50 vs 0.38 p < 0.01, 4.2 vs 3.6 p < 0.05, and 13.5 vs 15.2 cm/s p < 0.01, respectively). Almost all subjects with PA dilation had improved PA Z-score, RV MPI, and TV E/e' in the subacute phase (p < 0.01). There were no significant differences in indices of left ventricle function between PA dilation group and non-PA dilation group. In summary, PA dilation was documented in 16 % of acute KD subjects. These subjects were more likely to have echocardiographic indices consistent with isolated RV dysfunction that improved in the subacute phase. The long-term consequence of these findings will require longitudinal studies of this patient population. PMID:26681305

  6. Cardiopulmonary Function, Exercise Capacity, and Echocardiography Finding of Pediatric Patients With Kawasaki Disease

    Science.gov (United States)

    Tuan, Sheng-Hui; Li, Min-Hui; Hsu, Miao-Ju; Tsai, Yun-Jeng; Chen, Yin-Han; Liao, Tin-Yun; Lin, Ko-Long

    2016-01-01

    Abstract Coronary artery (CA) abnormalities influence exercise capacity (EC) of patients with Kawasaki disease (KD), and Z-score of CA is a well established method for detecting CA aneurysm. We studied the influence of KD on cardiopulmonary function and EC; meanwhile we analyzed echocardiographic findings of KD patients. We also assessed the correlation between CA Z-score and EC of KD patients to see if CA Z-score of KD patients could reflect EC during exercise. Sixty-three KD patients were recruited as KD group 1 from children (aged 5–18 y) who received transthoracic echocardiographic examinations and symptom-limited treadmill exercise test for regular follow-up of KD from January 2010 to October 2014 in 1 medical center. We then divided KD group 1 into KD group 2 (pressure products (PRPPs) in KD group 1 to 3 were all lower than corresponding control groups significantly (P = 0.010, 0.020, and 0.049, respectively). PRPPs correlated with Max-Z of CA by both equations modest inversely (by Dallaire, P = 0.017, Spearman rho = −0.301; by Fuse, P = 0.014, Spearman rho = −0.309). Our study recruited larger number of KD patients and provided a newer data of EC of KD patients. Our finding suggests that after acute stage of KD, patients could maintain normal cardiorespiratory fitness. Therefore, we believe that it is important to promote cardiovascular health to KD patients and KD patients should exercise as normal peers. However, since KD patients might still have compromised coronary perfusion during exercise, it remains crucial to assess and monitor cardiovascular risk of KD patients. Max-Z of CA correlates with PRPP modest inversely and might be used as a follow-up indicator of CA reserve during exercise after acute stage of KD. PMID:26765431

  7. Cardiopulmonary Function, Exercise Capacity, and Echocardiography Finding of Pediatric Patients With Kawasaki Disease: An Observational Study.

    Science.gov (United States)

    Tuan, Sheng-Hui; Li, Min-Hui; Hsu, Miao-Ju; Tsai, Yun-Jeng; Chen, Yin-Han; Liao, Tin-Yun; Lin, Ko-Long

    2016-01-01

    Coronary artery (CA) abnormalities influence exercise capacity (EC) of patients with Kawasaki disease (KD), and Z-score of CA is a well established method for detecting CA aneurysm. We studied the influence of KD on cardiopulmonary function and EC; meanwhile we analyzed echocardiographic findings of KD patients. We also assessed the correlation between CA Z-score and EC of KD patients to see if CA Z-score of KD patients could reflect EC during exercise.Sixty-three KD patients were recruited as KD group 1 from children (aged 5-18 y) who received transthoracic echocardiographic examinations and symptom-limited treadmill exercise test for regular follow-up of KD from January 2010 to October 2014 in 1 medical center. We then divided KD group 1 into KD group 2 (pressure products (PRPPs) in KD group 1 to 3 were all lower than corresponding control groups significantly (P = 0.010, 0.020, and 0.049, respectively). PRPPs correlated with Max-Z of CA by both equations modest inversely (by Dallaire, P = 0.017, Spearman rho = -0.301; by Fuse, P = 0.014, Spearman rho = -0.309).Our study recruited larger number of KD patients and provided a newer data of EC of KD patients. Our finding suggests that after acute stage of KD, patients could maintain normal cardiorespiratory fitness. Therefore, we believe that it is important to promote cardiovascular health to KD patients and KD patients should exercise as normal peers. However, since KD patients might still have compromised coronary perfusion during exercise, it remains crucial to assess and monitor cardiovascular risk of KD patients. Max-Z of CA correlates with PRPP modest inversely and might be used as a follow-up indicator of CA reserve during exercise after acute stage of KD. PMID:26765431

  8. Hepcidin-Induced Iron Deficiency Is Related to Transient Anemia and Hypoferremia in Kawasaki Disease Patients

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    Ying-Hsien Huang

    2016-05-01

    Full Text Available Kawasaki disease (KD is a type of systemic vasculitis that primarily affects children under the age of five years old. For sufferers of KD, intravenous immunoglobulin (IVIG has been found to successfully diminish the occurrence of coronary artery lesions. Anemia is commonly found in KD patients, and we have shown that in appropriately elevated hepcidin levels are related to decreased hemoglobin levels in these patients. In this study, we investigated the time period of anemia and iron metabolism during different stages of KD. A total of 100 patients with KD and 20 control subjects were enrolled in this study for red blood cell and hemoglobin analysis. Furthermore, plasma, urine hepcidin, and plasma IL-6 levels were evaluated using enzyme-linked immunosorbent assay in 20 KD patients and controls. Changes in hemoglobin, plasma iron levels, and total iron binding capacity (TIBC were also measured in patients with KD. Hemoglobin, iron levels, and TIBC were lower (p < 0.001, p = 0.009, and p < 0.001, respectively while plasma IL-6 and hepcidin levels (both p < 0.001 were higher in patients with KD than in the controls prior to IVIG administration. Moreover, plasma hepcidin levels were positively and significantly correlated with urine hepcidin levels (p < 0.001 prior to IVIG administration. After IVIG treatment, plasma hepcidin and hemoglobin levels significantly decreased (both p < 0.001. Of particular note was a subsequent gradual increase in hemoglobin levels during the three weeks after IVIG treatment; nevertheless, the hemoglobin levels stayed lower in KD patients than in the controls (p = 0.045. These findings provide a longitudinal study of hemoglobin changes and among the first evidence that hepcidin induces transient anemia and hypoferremia during KD’s acute inflammatory phase.

  9. Epidemiologic features of Kawasaki disease in Shanghai from 2003 through 2007

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    MA Xiao-jing; YU Cen-yan; HUANG Min; CHEN Shu-bao; HUANG Mei-rong; HUANG Guo-ying

    2010-01-01

    Background The epidemiologic pictures of Kawasaki disease (KD) in Shanghai from 1998 through 2002 were reported,while the current status of KD in the following five years remains unknown.Methods A questionnaire form and diagnostic guidelines for KD were sent to 50 hospitals providing pediatric medical care in Shanghai, China. All patients with KD diagnosed during January 2003 through December 2007 were recruited.Results In total, 1187 cases of KD were enrolled. The incidence of KD was 36.78 to 53.28 (mean 46.32±6.51) per 100 000children under the age of 5 years between 2003 and 2007, which was higher than the year from 1998 to 2002 of (27.32±7.11) per 100 000, (t=4.406, P=0.002). Ages at onset ranged from 12 days to 13.6 years (median 1.8 years). It occurred more frequently in summer and spring. Coronary arterial lesions (CAL), defined as ectasia or aneurysm,accounted for 19.8% (232 cases). Flattened or inverted T wave was the most frequent finding (194 cases, 20.5%) by electrocardiogram. Intravenous gamma-globulin was administrated to 1028 cases (86.6%). The occurrence of CAL seemed less frequent in the patients received gamma-globulin from day 5 to day 9 after the onset with the regimen of 1000 mg/kg once or 1000 mg/kg twice.Conclusions The incidence of KD was increasing in Shanghai. Treatment with intravenous gamma-globulin from day 5 to day 9 after the onset with the regimen of 1000 mg/kg once or 1000 mg/kg twice resulted in less coronary sequelae.

  10. Corticosteroid Therapy Might be Associated with the Development of Coronary Aneurysm in Children with Kawasaki Disease

    Institute of Scientific and Technical Information of China (English)

    Chun-Na Zhao; Zhong-Dong Du; Ling-Ling Gao

    2016-01-01

    Background:Coronary artery lesions (CALs) are known to be the main complication in children with Kawasaki disease (KD).Instead of intravenous immunoglobulin (IVIG),corticosteroid therapy has been accepted to be used for children with KD who are unresponsive to IVIG.This study aimed to evaluate risk factors for CALs in children with KD.Methods:We retrospectively reviewed the clinical records of 2331 children with KD from January 2005 to December 2014.To identify the independent risk factors for CALs,multivariable logistic regression models were constructed using significant variables identified from univariate logistic regression analysis.Results:The incidence of CALs was 36.0% (840 of 2331),including 625 (26.8%) coronary artery dilations and 215 (9.2%) coronary artery aneurysms (CAAs).Multivariable logistic regression analysis identified that male,incomplete KD,longer fever duration,and C-reactive protein (CRP) > 100 mg/L were independent risk factors for coronary artery dilatations.On the other hand,male,incomplete KD,longer fever duration,prolonged days of illness at the initial treatment,corticosteroid therapy,sodium ≤133 mmol/L,and albumin <35 g/L were the independent risk factors for CAAs.In addition,corticosteroid therapy,prolonged days of illness at the initial treatment,and albumin <35 g/L were the independent risk factors for giant CAAs.Conclusions:CALs might be associated with male sex,incomplete KD,longer fever duration,prolonged days of illness at the initial treatment,albumin <35 g/L,sodium ≤ 133 mmol/L,CRP > 100 mg/L,and corticosteroid therapy.Corticosteroid therapy was an independent risk factor for CAAs and giant CAAs.Thus,corticosteroids should be used with caution in the treatment of KD with the risk for CALs.

  11. Orthostatic Hypotension in Patients with Parkinson's Disease and Atypical Parkinsonism

    OpenAIRE

    Seyed-Mohammad Fereshtehnejad; Johan Lökk

    2014-01-01

    Orthostatic hypotension (OH) is one of the commonly occurring nonmotor symptoms in patients with idiopathic Parkinson’s disease (IPD) and atypical parkinsonism (AP). We aimed to review current evidences on epidemiology, diagnosis, treatment, and prognosis of OH in patients with IPD and AP. Major electronic medical databases were assessed including PubMed/MEDLINE and Embase up to February 2013. English-written original or review articles with keywords such as “Parkinson’s disease,” “atypical p...

  12. Detection of coronary artery stenosis in children with Kawasaki disease. Usefulness of pharmacologic stress 201Tl myocardial tomography

    International Nuclear Information System (INIS)

    This study determined the feasibility and accuracy of quantitative 201Tl myocardial single-photon emission computed tomography (SPECT) after dipyridamole infusion to detect coronary obstructive lesions in children with Kawasaki disease. 201Tl distribution after dipyridamole infusion was measured in 23 normal children, and with these normal values, quantitative analysis of SPECT was performed in 49 patients. Thirty-four patients had coronary stenosis 90% or greater on angiograms. Side effects resulting from systemic vasodilation were observed in about 70%. Angina pectoris and ischemic ST changes were observed only in patients with coronary stenosis. These symptoms disappeared after aminophylline infusion. Results of visual and quantitative analysis of SPECT were compared. SPECT data were shown on two-dimensional polar maps, and the extent and severity scores were calculated. The sensitivity of SPECT for detection of overall coronary stenosis was 91% (visual analysis) and 88% (quantitative analysis). The specificity of SPECT was 60% visually and 93% quantitatively. The sensitivity of quantitative analysis to detect individual coronary stenosis was similar to that of visual analysis. However, the specificity of visual analysis to detect individual coronary artery stenosis was significantly less than that of quantitative analysis. From these data, we conclude that quantitative analysis of myocardial SPECT after dipyridamole infusion is a safe and accurate diagnostic method for identifying coronary stenosis in children with Kawasaki disease

  13. Exploring the genes associated with the response to intravenous immunoglobulin in patients with Kawasaki disease using DNA microarray analysis.

    Science.gov (United States)

    Xing, Yanlin; Wang, Hong; Liu, Xiaomei; Yu, Xianyi; Chen, Rui; Wang, Ce; Yu, Xuexin; Sun, Le

    2015-02-01

    In this study we aimed to screen genes associated with intravenous immunoglobulin (IVIG) responding in patients with Kawasaki disease (KD) and thus explore the underlying molecular mechanism of IVIG resistance. The differentially expressed genes (DEGs) were identified by samr package in R. Then, protein-protein interaction (PPI) networks were constructed by STRING software. We further collected the regulatory data from TRANSFAC database, followed by regulatory interaction network construction. A total 194 of DEGs, including 185 up- and 9 down-regulated DEGs, were identified between IVIG-responding and non-responding patients with KD at acute stage. In contrast, no DEGs were found at convalescent stage. PPI networks and regulatory networks were constructed based on the 185 up-regulated genes at acute stage. The degrees of TFRC (transferrin receptor protein 1) and GADD45A (growth arrest and DNA-damage-inducible alpha) were higher than other genes, and meanwhile MYC (V-Myc Myelocytomatosis Viral Oncogene Homolog) and E2F1 (E2F Transcription Factor 1) were found to be two TFs (transcription factors) with the highest degrees. In conclusions, the response to IVIG in Kawasaki disease patients may be involved in the expression of TFRC, GADD45A, MYC and E2F1. PMID:25449331

  14. Hemolytic anemia following intravenous immunoglobulin therapy in patients treated for Kawasaki disease: a report of 4 cases

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    Berard Roberta

    2012-04-01

    Full Text Available Abstract Background Hemolytic anemia is a rare but reported side effect of intravenous immunoglobulin (IVIG therapy. The risk of significant hemolysis appears greater in those patients who receive high dose IVIG. The etiology is multifactorial but may relate to the quantity of blood group antibodies administered via the IVIG product. Findings We describe 4 patients with significant hemolytic anemia following treatment with IVIG for Kawasaki disease (KD. Direct antibody mediated attack as one of the mechanisms for hemolysis, in this population, is supported by the demonstration of specific blood group antibodies in addition to a positive direct antiglobulin test in our patients. Conclusions Clinicians should be aware of this complication and hemoglobin should be closely monitored following high dose IVIG therapy.

  15. Atypical form of cat scratch disease in immunocompetent patient

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    Kojić Miroslav

    2013-01-01

    Full Text Available Introduction. Cat scratch disease (CSD is an acute infectious disease with benign course caused by the bacteria Bartonella henselae. Clinically, it is usually manifested as regional lymphadenopathy and mild infective syndrome. Rare forms of the disease which usually occur in immunocompromised presons are: encephalitis, transverse myelitis, neuroretinitis, granulomatosus conjunctivitis, arthritis, hepatitis etc. Case report. We presented an atypical form of cat scratch disease in a young immunocompetent female person. The disease was manifested with prolonged fever, rash, purulent lymphadenitis and hepatitis. The diagnosis was based on characteristic patohystological finding and exclusion of the other causes of lymphadenopathy. The patient was treated by antibiotics for a few weeks, with surgical incision and drainage of the purulent lymphadenitis. Conclusion. Atypical forms of CSD could be an important differential-diagnostic problem, especially if there is no opportunity for serological confirmation of the disease.

  16. Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease

    Science.gov (United States)

    Guo, Mindy Ming-Huey; Huang, Ying-Hsien; Yu, Hong-Ren; Huang, Fu-Chen; Jiao, Fuyong; Kuo, Hsing-Chun; Andrade, Jorge

    2016-01-01

    Kawasaki disease (KD) or Kawasaki syndrome is known as a vasculitis of small to medium-sized vessels, and coronary arteries are predominantly involved in childhood. Generally, 20–25% of untreated with IVIG and 3–5% of treated KD patients have been developed coronary artery lesions (CALs), such as dilatation and aneurysm. Understanding how coronary artery aneurysms (CAAs) are established and maintained in KD patients is therefore of great importance. Upon our previous genotyping data of 157 valid KD subjects, a genome-wide association study (GWAS) has been conducted among 11 (7%) CAA-developed KD patients to reveal five significant genetic variants passed pre-defined thresholds and resulted in two novel susceptibility protein-coding genes, which are NEBL (rs16921209 (P = 7.44 × 10−9; OR = 32.22) and rs7922552 (P = 8.43 × 10−9; OR = 32.0)) and TUBA3C (rs17076896 (P = 8.04 × 10−9; OR = 21.03)). Their known functions have been reported to associate with cardiac muscle and tubulin, respectively. As a result, this might imply their putative roles of establishing CAAs during KD progression. Additionally, various model analyses have been utilized to determine dominant and recessive inheritance patterns of identified susceptibility mutations. Finally, all susceptibility genes hit by significant genetic variants were further investigated and the top three representative gene-ontology (GO) clusters were regulation of cell projection organization, neuron recognition, and peptidyl-threonine phosphorylation. Our results help to depict the potential routes of the pathogenesis of CAAs in KD patients and will facilitate researchers to improve the diagnosis and prognosis of KD in personalized medicine. PMID:27171184

  17. A Combination of Cross Correlation and Trend Analyses Reveals that Kawasaki Disease is a Pollen-Induced Delayed-Type Hyper-Sensitivity Disease

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    Akira Awaya; Chiaki Nishimura

    2014-01-01

    Based on ecological analyses we proposed in 2003 the relation of Kawasaki Disease (KD) onset causing acute febrile systemic vasculitis, and pollen exposure. This study was aimed at investigating the correlation between pollen release and the change in the numbers of KD patients from 1991 to 2002 in Kanagawa, Japan. Short-term changes in the number of KD patients and medium- to long-term trends were analyzed separately. Short-term changes in the number of KD patients showed a significant pos...

  18. Assessment of coronary artery aneurysms in paediatric patients with Kawasaki disease by multidetector row CT angiography: feasibility and comparison with 2D echocardiography

    International Nuclear Information System (INIS)

    Transthoracic ECHO is the locally accepted method for coronary surveillance of patients with Kawasaki disease but it may have limited visualization in the older child. To assess the feasibility of multidetector CT (MDCT) angiography in the follow-up of coronary artery aneurysms in children with previous Kawasaki disease. Six children (5 boys, 1 girl; mean age 11.5 years) with known Kawasaki disease and coronary artery involvement underwent CT coronary angiography using 16-detector MDCT. The visualized lengths and diameter of all coronary segments were measured. The number, size and location of coronary artery aneurysms were recorded and compared with recent ECHO. Twelve coronary artery aneurysms (seven saccular, five fusiform) were identified by MDCT angiography. One saccular aneurysm at the junction of the distal right coronary artery and posterior descending artery was not detected by ECHO while the remaining six in proximal segments were detected by both modalities. Two of five fusiform aneurysms were not detected by ECHO due to their small sizes. Excellent agreement was found between CT and ECHO for maximal diameter and length of the visualized aneurysms. MDCT angiography accurately defines coronary artery aneurysms. It is more sensitive for detecting aneurysms at distal coronary segments and fusiform aneurysms of small size

  19. Changes in plasma hydrogen sulfide and nitric oxide levels and their clinical significance in children with Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    LI Xiao-hui; ZHANG Chao-ying; WU Jian-xin; ZHANG Ting

    2011-01-01

    Background Cardiac involvement is the most common complication of Kawasaki disease (KD); however,the underlying mechanisms are not understood.The present study was designed to investigate changes in plasma hydrogen sulfide (H2S) and nitric oxide (NO) levels in the acute and recovery stages of KD children and to examine their clinical significance.Methods Thirty-five KD patients and 32 healthy children were enrolled in the study.KD patients were divided into two subgroups:a non-cardiac involvement group and a cardiac involvement group.Plasma H2S levels were measured using the sulfur-sensitive electrode method and plasma NO levels and NO synthase activity were determined using the nitrate reductase method both before and after intravenous immune globulin (IVIG) therapy.Results Plasma H2S levels significantly decreased in KD patients during the acute phase of the disease and NO levels were significantly increased,compared with the control group (P <0.01).After treatment with IVIG,both plasma H2S and NO levels significantly increased (P <0.01).The plasma levels of H2S were significantly lower in the cardiac involvement group compared with the non-cardiac involvement group (P<0.05).Conclusion H2S and NO may play a role in the pathophysiological process of inflammation during the acute phase of KD.Endogenous H2S may exert protective effects with respect to cardiac complications in KD.

  20. Increased Risk of Atopic Dermatitis in Preschool Children with Kawasaki Disease: A Population-Based Study in Taiwan

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    Peng Yeong Woon

    2013-01-01

    Full Text Available Kawasaki disease (KD is an acute febrile systemic vasculitis and has been reported to be associated with allergic disease. The risk of atopic dermatitis (AD in preschool children with KD has not been investigated. The study was to determine the longitudinal risk of the development of AD in preschool children with KD. A nationwide 5-year population-based study was performed using data from the National Health Insurance Database in Taiwan between 1999 and 2003. The risk factors for AD were compared between the 2 study groups during the follow-up period using the Cox proportional hazards model. In addition, plasma interleukin (IL-5 levels were analyzed in normal subjects and KD patients. Among the 1440 subjects included, 21.6% developed AD during the 5-year follow-up period, of which 30.3% and 18.7% belonged to the study cohort and the comparison group, respectively. Children with KD were 1.25 times more likely to have AD than those in controls (P=0.04. Levels of IL-5 and IgE were significantly higher in KD patients. Children with KD had a higher risk of developing AD during the 5-year follow-up period than the control group. Increased IL-5 and IgE levels may be key factors contributing to the risk of AD.

  1. Single-nucleotide polymorphism rs7251246 in ITPKC is associated with susceptibility and coronary artery lesions in Kawasaki disease.

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    Ho-Chang Kuo

    Full Text Available Kawasaki disease (KD is a multi-systemic vasculitis that preferentially affects children. A single nucleotide polymorphism (SNP in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC has been identified to be an important polymorphism in the risk of KD. This study was conducted to comprehensively investigate the associations between all tagging SNPs of ITPKC in the risk of KD in a Taiwanese population. A total of 950 subjects (381 KD patients and 569 controls were recruited. Seven tagging SNPs (rs11673492, rs7257602, rs7251246, rs890934, rs10420685, rs2607420, rs2290692 were selected for TaqMan allelic discrimination assay. Clinical data of coronary artery lesions (CAL and aneurysms were collected for analysis. A significant association was found between rs7251246 in ITPKC and CAL formation. Haplotype analysis for ITPKC polymorphisms also confirmed this association in the patients with CAL and aneurysm formation. This is the first study to identify that SNP rs7251246 in ITPKC is associated with the severity of KD.

  2. Etanercept Suppresses Arteritis in a Murine Model of Kawasaki Disease: A Comparative Study Involving Different Biological Agents

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    Ryuji Ohashi

    2013-01-01

    Full Text Available Coronary arteritis, a complication of Kawasaki disease (KD, can be refractory to immunoglobulin (IVIG treatment. To determine the most effective alternative therapy, we compared the efficacy of different agents in a mouse model of KD. Vasculitis was induced by injection of Candida albicans water-soluble fractions (CAWS into a DBA/2 mouse, followed by administration of IVIG, etanercept, methylprednisolone (MP, and cyclosporine-A (CsA. At 2 and 4 weeks, the mice were sacrificed, and plasma cytokines and chemokines were measured. CAWS injection induced active inflammation in the aortic root and coronary arteries. At 2 weeks, the vasculitis was reduced only by etanercept, and this effect persisted for the subsequent 2 weeks. At 4 weeks, IVIG and CsA also attenuated the inflammation, but the effect of etanercept was more significant. MP exerted no apparent effect at 2 or 4 weeks. The suppressive effect exerted by etanercept on cytokines, such as interleukin- (IL-6, IL-12, IL-13, and tumor necrosis factor-α (TNF-α, was more evident than that of others. The extent of arteritis correlated with the plasma TNF-α levels, suggesting a pivotal role of TNF-α in KD. In conclusion, etanercept was most effective in suppressing CAWS-induced vasculitis and can be a new therapeutic intervention for KD.

  3. Severe vitamin D deficiency in patients with Kawasaki disease: a potential role in the risk to develop heart vascular abnormalities?

    Science.gov (United States)

    Stagi, Stefano; Rigante, Donato; Lepri, Gemma; Matucci Cerinic, Marco; Falcini, Fernanda

    2016-07-01

    Twenty-five-hydroxyvitamin D (25(OH)-vitamin D) is crucial in the regulation of immunologic processes, but-although its deficiency has been reported in patients with different rheumatological disorders-no data are available for Kawasaki disease (KD). The goals of this study were to assess the serum levels of 25(OH)-vitamin D in children with KD and evaluate the relationship with the eventual occurrence of KD-related vascular abnormalities. We evaluated serum 25(OH)-vitamin D levels in 79 children with KD (21 females, 58 males, median age 4.9 years, range 1.4-7.5 years) in comparison with healthy sex-/age-matched controls. A significantly higher percentage of KD patients (98.7 %) were shown to have reduced 25(OH)-vitamin D levels (vitamin D than controls (9.17 ± 4.94 vs 23.3 ± 10.6 ng/mL, p vitamin D levels correlated not only with erythrosedimentation rate (p vitamin D might have a contributive role in the development of coronary artery complications observed in children with KD. PMID:25994612

  4. Combined Papillated Bowen Disease and Clear Cell Atypical Fibroxanthoma

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    Dimas Suárez-Vilela

    2010-05-01

    Full Text Available We describe a case of papillated Bowen disease (PBD, associated with a clear cell atypical fibroxanthoma (CCAFXA. The epidermal lesion showed a bowenoid papillomatous growth pattern with histologic features suggestive of infection by human papilloma virus (HPV. In the dermis a neoplasm made up by spindled or polygonal cells with wide clear cytoplasm and moderate nuclear pleomorphism was found. Immunohistochemical characteristics of these two lesions were clearly different. The atypical cells of the intraepidermal proliferation were positive for AE1-AE3 anticytokeratin antibody, EMA, p16, p53 and p63. The dermal tumor was positive for vimentin, CD10, CD68, CD99, alpha-1-antitrypsin and c-kit. Histological features and immunohistochemical profile of the dermal tumor corresponded to a CCAFXA, a very uncommon neoplasm of which only 10 cases have been reported. In situ hybridization for numerous types of HPVs was negative in both lesions.

  5. Noninvasive quantification of coronary endothelial function by SPECT imaging in children with a history of Kawasaki disease

    Energy Technology Data Exchange (ETDEWEB)

    Cicala, Silvana; Paladini, Rodolfo; Leva, Francesco de [Santobono-Pausilipon Children Medical Hospital, Division of Cardiology, Department of Paediatrics, Naples (Italy); Pellegrino, Teresa; Caprio, Maria Grazia [Institute of Diagnostic and Nuclear Development, SDN Foundation, Naples (Italy); Storto, Giovanni [IRCCS, CROB, Rionero in Vulture (Italy); Mainolfi, Ciro; Cuocolo, Alberto [Federico II University, Department of Biomorphological and Functional Sciences, Naples (Italy); National Council of Research, Institute of Biostructures and Bioimages, Naples (Italy)

    2010-12-15

    The feasibility of coronary function estimation by single photon emission computed tomography (SPECT) has been recently demonstrated. The aim of this study was to apply SPECT imaging in patients with previous Kawasaki disease (KD) to assess the coronary functional status at long-term follow-up of the acute phase of the disease. Sixteen children with a history of KD underwent {sup 99m}Tc-sestamibi imaging at rest and during the cold pressor test (CPT). Myocardial blood flow (MBF) was estimated by measuring first transit counts in the pulmonary artery and myocardial counts from SPECT images. Coronary endothelial function was expressed as the ratio of the CPT to rest MBF. Six KD patients without coronary artery lesions served as controls and ten with coronary artery aneurysms during the acute phase of the disease were separated into two groups: group 1 (n = 4) with regressed and group 2 (n = 6) with persistent aneurysm at follow-up. The estimated coronary endothelial function was higher in controls compared to patients with coronary artery aneurysms (2.5 {+-} 0.3 vs 1.7 {+-} 0.7, p < 0.05). A significant difference in coronary endothelial function among groups was found (F = 5.21, p < 0.02). Coronary endothelial function was higher in patients of group 1 than in those of group 2 (1.9 {+-} 0.6 vs 1.4 {+-} 0.7, p < 0.02). SPECT may be applied as a noninvasive method for assessing coronary vascular function in children with a history of KD, demonstrating an impaired response to the CPT, an endothelial-dependent vasodilator stimulus. These findings reinforce the concept that coronary endothelial dysfunction may represent a long-term sequela of KD. (orig.)

  6. Noninvasive quantification of coronary endothelial function by SPECT imaging in children with a history of Kawasaki disease

    International Nuclear Information System (INIS)

    The feasibility of coronary function estimation by single photon emission computed tomography (SPECT) has been recently demonstrated. The aim of this study was to apply SPECT imaging in patients with previous Kawasaki disease (KD) to assess the coronary functional status at long-term follow-up of the acute phase of the disease. Sixteen children with a history of KD underwent 99mTc-sestamibi imaging at rest and during the cold pressor test (CPT). Myocardial blood flow (MBF) was estimated by measuring first transit counts in the pulmonary artery and myocardial counts from SPECT images. Coronary endothelial function was expressed as the ratio of the CPT to rest MBF. Six KD patients without coronary artery lesions served as controls and ten with coronary artery aneurysms during the acute phase of the disease were separated into two groups: group 1 (n = 4) with regressed and group 2 (n = 6) with persistent aneurysm at follow-up. The estimated coronary endothelial function was higher in controls compared to patients with coronary artery aneurysms (2.5 ± 0.3 vs 1.7 ± 0.7, p < 0.05). A significant difference in coronary endothelial function among groups was found (F = 5.21, p < 0.02). Coronary endothelial function was higher in patients of group 1 than in those of group 2 (1.9 ± 0.6 vs 1.4 ± 0.7, p < 0.02). SPECT may be applied as a noninvasive method for assessing coronary vascular function in children with a history of KD, demonstrating an impaired response to the CPT, an endothelial-dependent vasodilator stimulus. These findings reinforce the concept that coronary endothelial dysfunction may represent a long-term sequela of KD. (orig.)

  7. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

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    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  8. Myocardial Strain and Strain Rate in Kawasaki Disease: Range, Recovery, and Relationship to Systemic Inflammation/Coronary Artery Dilation

    Science.gov (United States)

    Frank, Benjamin; Davidson, Jesse; Tong, Suhong; Martin, Blake; Heizer, Heather; Anderson, Marsha S; Glode, Mary P; Dominguez, Samuel R; Jone, Pei-Ni

    2016-01-01

    Background Kawasaki Disease (KD), a systemic vasculitis of medium sized vessels, is the most common cause of acquired heart disease among children in the developed world. Some KD patients demonstrate echocardiographic evidence of depressed myocardial mechanics. However, the incidence, etiology, and reversibility of abnormal mechanics in KD patients remain undefined. Methods and results We retrospectively studied 41 KD patients and measured myocardial strain and strain rate by velocity vector imaging from pre-treatment and convalescent echocardiograms. Pre-treatment procalcitonin, C-reactive protein (CRP), and coronary artery z-scores were obtained in all patients and compared between the groups with preserved versus depressed acute phase mechanics. The change in mechanics between the acute and convalescent phases was also assessed. Patients with initially low longitudinal strain improved by the convalescent period (mean difference - 4.0%; p<0.005) with the greatest improvement occurring in patients with the lowest initial strain (−7.3%; p<0.05). Patients with higher initial strain did not change significantly by the convalescent period. Patients with lower longitudinal and circumferential strain demonstrated higher median procalcitonin levels (1.2 vs. 0.3 ng/mL; p<0.05 and 1.8 vs. 0.4 ng/mL; p<0.05 respectively) and a trend towards higher CRP, but no difference in coronary artery z-scores. Strain rate was not associated with inflammatory markers or coronary artery z-scores. Conclusions The range of strain found in our cohort was large. Improvement in mean strain was driven primarily by patients with lower initial strain. Lower strain was associated with increased markers of systemic inflammation, but not proximal coronary artery changes.

  9. A simple method for assessment of human anti-Neu5Gc antibodies applied to Kawasaki disease.

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    Vered Padler-Karavani

    Full Text Available N-glycolylneuraminic acid (Neu5Gc is an immunogenic sugar of dietary origin that metabolically incorporates into diverse native glycoconjugates in humans. Anti-Neu5Gc antibodies are detected in all human sera, though with variable levels and epitope-recognition profiles. These antibodies likely play a role in several inflammation-mediated pathologies including cardiovascular diseases and cancer. In cancer, they have dualistic and opposing roles, either stimulating or repressing disease, as a function of their dose, and some of these antibodies serve as carcinoma biomarkers. Thus, anti-Neu5Gc antibodies may signify risk of inflammation-mediated diseases, and changes in their levels could potentially be used to monitor disease progression and/or response to therapy. Currently, it is difficult to determine levels of anti-Neu5Gc antibodies in individual human samples because these antibodies recognize multiple Neu5Gc-epitopes. Here we describe a simple and specific method for detection and overall estimation of human anti-Neu5Gc antibodies. We exploit the difference between two mouse models that differ only by Neu5Gc-presence (wild-type or Neu5Gc-absence (Cmah(-/- knockout. We characterize mouse serum from both strains by HPLC, lectin and mass-spectrometry analysis and show the target Neu5Gc-epitopes. We then use Cmah(-/- knockout sera to inhibit all non-Neu5Gc-reactivity followed by binding to wild-type sera to detect overall anti-Neu5Gc response in a single assay. We applied this methodology to characterize and quantify anti-Neu5Gc IgG and IgA in sera of patients with Kawasaki disease (KD at various stages compared to controls. KD is an acute childhood febrile disease characterized by inflammation of coronary arteries that untreated may lead to coronary artery aneurysms with risk of thrombosis and myocardial infarction. This estimated response is comparable to the average of detailed anti-Neu5Gc IgG profile analyzed by a sialoglycan microarray

  10. Non-Responders to Intravenous Immunoglobulin and Coronary Artery Dilatation in Kawasaki Disease: Predictive Parameters in Korean Children

    Science.gov (United States)

    Kim, Bo Young; Kim, Dongwan; Kim, Yong Hyun; Ryoo, Eell; Sun, Yong Han; Jeon, In-sang; Jung, Mi-Jin; Cho, Hye Kyung; Tchah, Hann; Choi, Deok Young

    2016-01-01

    Background and Objectives In Kawasaki disease (KD), high dose intravenous immunoglobulin (IVIG) significantly lowers the coronary complications. However, some patients either do not respond to initial therapy or develop coronary complications. We aimed to identify the predictive factors for unresponsiveness to initial IVIG therapy and coronary artery dilatation (CAD; defined by Z-score≥2.5) in the acute phase and convalescent phase. Subjects and Methods A retrospective review was conducted of 703 patients with KD, admitted to Gachon University Gil Medical Center between January 2005 and June 2013. The patients were divided into two groups—IVIG responders vs. non-responders—based on the IVIG treatments, and presence of fever after treatment. Further, these groups were divided into two subgroups based on their CAD. Results Among the 703 patients with KD, the rate of non-responders to initial IVIG was 16.8%. Serum total bilirubin, platelet count, and neutrophil proportion were independent predictive parameters of unresponsiveness (p<0.05). CAD was found in 234 patients (33.3%) in the acute phase, and in 32 patients (4.6%) in the convalescent phase. Male gender, fever duration, serum C-reactive protein, and white blood cell count were related to CAD (p<0.05). CAD was detected more frequently in non-responders than in the responders (47.5% vs. 31.5%, p=0.001). Kobayashi, Egami, and Sano scoring systems applied to our study population reflected low sensitivities (28.0-33.9%). Conclusion Several independent parameters were related to unresponsiveness to the initial IVIG or CAD. These parameters might be helpful in establishing more focused and careful monitoring of high-risk KD patients in Korea.

  11. Granulocyte colony-stimulating factor ameliorates coronary artery elastin breakdown in a mouse model of Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    Liu Junfeng; Chen Zhi; Du Zhongdong; Lu Dunxiang

    2014-01-01

    Background Coronary artery damage from Kawasaki disease (KD) is closely linked to the dysfunction of the endothelial progenitor cells (EPCs).The aim of the present study was to evaluate the modulatory effect of granulocyte colony stimulating factor (G-CSF) on EPCs and elastin breakdown of coronary arteries in a KD mouse model.Methods A Lactobacillus casei cell wall extract (LCWE)-induced KD model was established in C57BL/6 mice that were subsequently administrated with recombinant human G-CSF (rhG-CSF).Nω-nitro-L-arginine methyl ester (L-NAME) was administrated for the negative intervention.Evaluations included coronary artery lesions,EPC number and functions,and the plasma concentration of nitric oxide (NO).Results Elastin breakdown was found in the coronary arteries of model mice 56 days after injection of LCWE.The number of circulating EPCs,plasma concentration of NO,and functions of bone marrow EPCs,including proliferation,adhesion,and migration abilities,were all lower in the KD model group compared with those in the control group.After administration of rhG-CSF,the number of circulating EPCs and plasma concentration of NO were increased significantly compared with those in the KD model group.There were also increases in the functional indexes of EPCs.Furthermore,rhG-CSF administration improved the elastin breakdown effectively.However,these protective effects of rhG-CSF on coronary arteries were attenuated by L-NAME.Conclusion The present study indicated that the administration of G-CSF prevents elastin breakdown of the coronary arteries by enhancing the number and functions of EPCs via the NO system,and then accelerates the repair of coronary artery lesions in the KD.

  12. Effect of pravastatin on endothelial dysfunction in children with medium to giant coronary aneurysms due to Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    Chao Duan; Zhong-Dong Du; Yu Wang; Li-Qun Jia

    2014-01-01

    Background: Ongoing low-grade inflammation and endothelial dysfunction persist in children with coronary lesions diagnosed with Kawasaki disease (KD). Statins, frequently used in the management of high cholesterol, have also shown to improve surrogate markers of infl ammation and endothelial dysfunction. This study was undertaken to investigate the effi cacy and safety of pravastatin in children with coronary artery aneurysms due to KD. Methods: The study enrolled 14 healthy children and 13 male children, aged 2-10 years, with medium-to-giant coronary aneurysms for at least 12 months after the onset of KD. Pravastatin was given orally to the KD group at a dose of 5 mg/day for children under 5 and 10 mg/day for children older than 5 years. To determine the effects of pravastatin on endothelial function, high-frequency ultrasound was performed before the start of the study and 6 months after pravastatin therapy. The parameters measured were brachial artery flow-mediated dilation (FMD), non-flow mediated dilation (NMD), and carotid artery stiffness index (SI). High sensitive C-reactive protein (hs-CRP) levels, the circulating endothelial progenitor cells (EPCs) number, and serum lipid profiles were also determined at baseline and after 6 months of pravastatin treatment. Results: Before treatment, the KD group had significantly decreased FMD (P0.05). No signifi cant complications were noted with paravastatin therapy. Conclusions: Pravastatin improves endothelial function and reduces low-grade chronic infl ammation in patients with coronary aneurysms due to KD. Children with coronary aneurysms due to KD may benefit from statin therapy.

  13. Analysis of the Clinical Nursing Experience of Children Kawasaki disease%浅谈小儿川崎病的临床护理体会

    Institute of Scientific and Technical Information of China (English)

    李利阳

    2015-01-01

    Kawasaki disease (KD), also known as Mucocutaneous lymph node syndrome, mostly in infants and young children, coronary artery lesion which it caused may lead to Ischemic heart disease in children, severe cases of coronary artery rupture, infarction and sudden death. This paper through to the clinical nursing of 45 cases of children , the clinical nursing care of children with Kawasaki disease system research, improved the clinical effect of treatment and care of children, reduce the harm to the children with the disease.%川崎病(KD)又称皮肤黏膜淋巴结综合征,多见于婴幼儿,它引起的冠状动脉损害可导致儿童缺血性心脏病,严重者冠状动脉破裂、梗塞而猝死。本文通过对45例患儿的治疗护理,对小儿川崎病的临床护理进行系统的研究,提高了对患儿的临床治疗和护理效果,减少该病对患儿的伤害。

  14. Incidence Rate and Epidemiological and Clinical Aspects of Kawasaki Disease in Children of Maghrebi Origin in the Province of Quebec, Canada, Compared to the Country of Origin

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    Gorrab, Arbia Abir; Fournier, Anne; Bouaziz, Asma Abed; Spigelblatt, Linda; Scuccimarri, Rosie; Mrabet, Ali; Dahdah, Nagib

    2016-01-01

    The incidence of Kawasaki disease in Maghreb countries is apparently low, unlike those living in the province of Quebec, Canada. This retrospective study compared Maghrebi children living in Quebec to the countries of origin, Morocco, Algeria, and Tunisia. The annualized incidence rate in Quebec (18.49/year/100 000 children under 5 years of age) was 4 to 12 times higher than in Tunisia, Morocco, and Algeria (0.95, 4.52, and 3.15, respectively). The prevalence of incomplete diagnostic criteria was higher in Quebec at 39%, Morocco 43%, and Tunisia 39% compared to Algeria at 8%, with minimal delayed diagnosis (7%) only in Quebec compared to 30%, 35%, and 62%, respectively (P aneurysms was comparable however (11% in Quebec vs 4%, 10%, and 25%, in Tunisia, Morocco, and Algeria, respectively; P = .31). The higher incidence of Kawasaki disease in the Maghreb community in Quebec versus the countries of origin seems due to underdiagnosis, which represents a public health concern in those countries.

  15. Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms.

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    Takeshi Kusuda

    Full Text Available Kawasaki disease (KD is a systemic vasculitis of unknown etiology. The innate immune system is involved in its pathophysiology at the acute phase. We have recently established a novel murine model of KD coronary arteritis by oral administration of a synthetic microbe-associated molecular pattern (MAMP. On the hypothesis that specific MAMPs exist in KD sera, we have searched them to identify KD-specific molecules and to assess the pathogenesis.We performed liquid chromatography-mass spectrometry (LC-MS analysis of fractionated serum samples from 117 patients with KD and 106 controls. Microbiological and LC-MS evaluation of biofilm samples were also performed.KD samples elicited proinflammatory cytokine responses from human coronary artery endothelial cells (HCAECs. By LC-MS analysis of KD serum samples collected at 3 different periods, we detected a variety of KD-specific molecules in the lipophilic fractions that showed distinct m/z and MS/MS fragmentation patterns in each cluster. Serum KD-specific molecules showed m/z and MS/MS fragmentation patterns almost identical to those of MAMPs obtained from the biofilms formed in vitro (common MAMPs from Bacillus cereus, Yersinia pseudotuberculosis and Staphylococcus aureus at the 1st study period, and from the biofilms formed in vivo (common MAMPs from Bacillus cereus, Bacillus subtilis/Bacillus cereus/Yersinia pseudotuberculosis and Staphylococcus aureus at the 2nd and 3rd periods. The biofilm extracts from Bacillus cereus, Bacillus subtilis, Yersinia pseudotuberculosis and Staphylococcus aureus also induced proinflammatory cytokines by HCAECs. By the experiments with IgG affinity chromatography, some of these serum KD-specific molecules bound to IgG.We herein conclude that serum KD-specific molecules were mostly derived from biofilms and possessed molecular structures common to MAMPs from Bacillus cereus, Bacillus subtilis, Yersinia pseudotuberculosis and Staphylococcus aureus. Discovery of these KD

  16. Treatment response in Kawasaki disease is associated with sialylation levels of endogenous but not therapeutic intravenous immunoglobulin G.

    Directory of Open Access Journals (Sweden)

    Shohei Ogata

    Full Text Available OBJECTIVES: Although intravenous immunoglobulin (IVIG is highly effective in Kawasaki disease (KD, mechanisms are not understood and 10-20% of patients are treatment-resistant, manifesting a higher rate of coronary artery aneurysms. Murine models suggest that α2-6-linked sialic acid (α2-6Sia content of IVIG is critical for suppressing inflammation. However, pro-inflammatory states also up-regulate endogenous levels of β-galactoside:α2-6 sialyltransferase-I (ST6Gal-I, the enzyme that catalyzes addition of α2-6Sias to N-glycans. We asked whether IVIG failures correlated with levels of α2-6Sia on infused IVIG or on the patient's own endogenous IgG. METHODS: We quantified levels of α2-6Sia in infused IVIG and endogenous IgG from 10 IVIG-responsive and 10 resistant KD subjects using multiple approaches. Transcript levels of ST6GAL1, in patient whole blood and B cell lines were evaluated by RT-PCR. Plasma soluble (sST6Gal-I levels were measured by ELISA. RESULTS: There was no consistent difference in median sialylation levels of infused IVIG between groups. However, α2-6Sia levels in endogenous IgG, ST6GAL1 transcript levels, and ST6Gal-I protein in serum from IVIG-resistant KD subjects were lower than in responsive subjects at both pre-treatment and one-year time points (p <0.001, respectively. CONCLUSIONS: Our data indicate sialylation levels of therapeutic IVIG are unrelated to treatment response in KD. Rather, lower sialylation of endogenous IgG and lower blood levels of ST6GALI mRNA and ST6Gal-I enzyme predict therapy resistance. These differences were stable over time, suggesting a genetic basis. Because IVIG-resistance increases risk of coronary artery aneurysms, our findings have important implications for the identification and treatment of such individuals.

  17. The atypical roentgenographic signs of Hirschsprung's disease in neonates

    International Nuclear Information System (INIS)

    Objective: To discuss the diagnostic value of atypical roentgenographic characters of Hirschsprung's disease in neonates. Methods: The cases were collected for this study from a list of 73 neonates who had colonic surgery or rectal biopsy. The clinical pictures of them were vomitus, abdominal distention, and failure to pass meconium. They were divided into two groups. One group consisted 36 cases of proved Hirschsprung's disease, and the other group consisted 37 cases of disproved Hirschsprung's disease. Their abdominal X-ray plain films and barium enema references were retrospectively analyzed. Among 36 cases of Hirschsprung's disease, 33 cases obtained abdominal X-ray plain films (supine and erect lateral or recumbent lateral projections) and 34 cases obtained barium enema examinations. Among 37 cases of disproved Hirschsprung's disease, 18 cases obtained abdominal X-ray plain films and all of the 37 cases obtained barium enema examinations. Results: The main manifestations of abdominal X-ray plain films in the cases of Hirschsprung's disease were low colonic obstruction and intestinal distention (23 cases, 70%), part of the cases showed low small intestinal obstruction (9 cases, 27%). There was no statistical difference between the two groups (P>0.05). One case's abdominal X-ray plain film of Hirschsprung's disease showed normal (P0.05). 18 cases of Hirschsprung's disease showed mixture of barium and feces and 18 cases in the other group also showed this sign (P>0.05). 6 cases of Hirschsprung's disease showed microcolon with the appearances of shortage of colon frame, barium reflux into distal ileum and barium retention. Conclusion: Local notch of the distal rectum, spiral or irregular bizarre saw-toothed contractions of the rectum and distal sigmoid colon, and delayed evacuation of barium are 3 valuable radiographic signs. Colitis itself isn't a valuable diagnostic radiographic sign of Hirschsprung's disease. It only shows inflammation of colon. And microcolon

  18. Usefulness of 64-slice MDCT for follow-up of young children with coronary artery aneurysm due to Kawasaki disease: Initial experience

    International Nuclear Information System (INIS)

    To evaluate the initial application and value of 64-slice multidetector computed tomography as an alternative diagnostic modality in the follow-up of young children with coronary artery aneurysm due to Kawasaki disease. Twelve boys (mean age 5.1 years, range 1.8-7.8 years) for follow-up (time range from 1.1 to 5.1 years) of known Kawasaki disease and coronary artery aneurysm underwent 64-slice MDCT ECG-gated coronary angiography. All data were acquired without breath holding. Two pediatric radiologists independently assessed image quality and the diameter of all coronary segments were measured for each patient. The number, position, shape and size of each coronary artery aneurysm were observed and compared with those of ECHO performed previously. A total of 118/156 segments permitted visualization with diagnostic image quality, the CT measurements showed good inter-observer and intra-observer reliability, coefficients were 0.93 and 0.88, respectively. A total of 30 coronary artery aneurysms were identified with measured mean of 7.5 ± 3.8 mm in diameter, and of 12.4 ± 9.1 mm in longitudinal lengths.10 tumors were small, 8 tumors were medium and 12 tumors were giant aneurysm. The affected segments included LM7/12(58.3%), 9/12(75%) of LAD1, 4/12(33.3%) of LAD2, 2/12(16.7%) of LCX1; 6/12(50%) of RCA1, 9/12(75%) of RCA2 and 4/12(33.3%) of RCA3, including affected two segments in 9 tumors and three segments in 1 tumor. Calcifications were found in 5 aneurysms and 3/5 with thrombosis; six stenotic segments were found. ECHO failed to detect 8 tumors with 2/8 in LAD, 1/8 in LCX and 5/8 in RCA, and those included 4 small aneurysms. The use of 64-slice MDCT angiography proved valuable for monitoring young children with Kawasaki disease. However, further study is necessary to specify the sensitivity and specificity of MDCT in the follow-up.

  19. A Combination of Cross Correlation and Trend Analyses Reveals that Kawasaki Disease is a Pollen-Induced Delayed-Type Hyper-Sensitivity Disease

    Directory of Open Access Journals (Sweden)

    Akira Awaya

    2014-03-01

    Full Text Available Based on ecological analyses we proposed in 2003 the relation of Kawasaki Disease (KD onset causing acute febrile systemic vasculitis, and pollen exposure. This study was aimed at investigating the correlation between pollen release and the change in the numbers of KD patients from 1991 to 2002 in Kanagawa, Japan. Short-term changes in the number of KD patients and medium- to long-term trends were analyzed separately. Short-term changes in the number of KD patients showed a significant positive cross correlation (CC with 9- to 10-month delay following pollen releases, and a smaller but significant CC with 3- to 4-month delay. Further, a temporal relationship revealed by positive CC distribution showed that pollen release preceded KD development, suggesting that pollen release leads to KD development. A trend in patient numbers was fitted by an exponential curve with the time constant of 0.005494. We hypothesized that the trend was caused by the cumulative effects of pollen exposure for elapsed months on patients who may develop KD. By comparing the time constants of fitted exponential curve for each pollen accumulation period with 0.005494, the exposure period was estimated to be 21.4 months, which explains why approximately 50% of patients developed KD within 24 months from birth.

  20. [Angiolymphoid hyperplasia with eosinophilia. The spectrum from Kimura disease to atypical pyogenic granuloma].

    Science.gov (United States)

    Wustrow, A; Mahrle, G

    1987-04-15

    A patient showed the "atypical pyogenic granuloma" of the head in combination with atopic dermatitis and proceeding pyogenic granuloma of the back. The diagnostic aspects of angiolymphoid hyperplasia with eosinophilia (ALHE) including Kimura's disease, subcutaneous ALHE, and atypical pyogenic granuloma are discussed. PMID:3111112

  1. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    DEFF Research Database (Denmark)

    Lindquist, Suzanne Granhøj; Nielsen, Jørgen Erik; Stokholm, Jette; Schwartz, Marianne; Batbayli, Mustafa; Ballegaard, Martin; Erdal, Jesper; Krabbe, Katja; Waldemar, Gunhild

    Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a...... family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features....

  2. 川崎病合并冠状动脉损害的遗传学基础%The genetic basis of coronary artery lesions in Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    时艳艳

    2010-01-01

    Kawasaki disease (KD) is an acute systemic vasculitis and its main life-threatening complications are coronary artery lesions(CAL), including coronary artery stenosis, thrombosis, aneurysm rupture, or sudden death. KD has now surpassed acute rheumatic fever as the leading cause of acquired heart disease in children. Therefore, it is important to identify as early as possible KD patients who are at risk for the development of CAL and intervent them timely. Genetic factors are thought to have important influences on the development and progress of Kawasaki disease and its CAL. In previous reports, several genetic polymorphisms, such as VEGF, MMPs and CD14 gene, were associated with the development of CAL. This review will introduce the study of gene polymorphisms in susceptibility to CAL in children with KD recently.%川崎病(KD)主要危及生命的并发症是冠状动脉损害(CAL),引起冠状动脉狭窄、血栓形成、动脉瘤破裂等,甚至猝死.KD现已成为儿童后天性心脏病的主要病因.因此,早期发现哪些KD患儿是发生CAL的易患人群,并予及时干预十分重要.遗传因素在KD及其CAL的发生发展中起重要作用,目前已发现多个基因的多态性与CAL相关.该文主要就近年来国内外关于KD合并CAL基因多态性的研究作一综述.

  3. Incidence Rate and Epidemiological and Clinical Aspects of Kawasaki Disease in Children of Maghrebi Origin in the Province of Quebec, Canada, Compared to the Country of Origin.

    Science.gov (United States)

    Gorrab, Arbia Abir; Fournier, Anne; Bouaziz, Asma Abed; Spigelblatt, Linda; Scuccimarri, Rosie; Mrabet, Ali; Dahdah, Nagib

    2016-01-01

    The incidence of Kawasaki disease in Maghreb countries is apparently low, unlike those living in the province of Quebec, Canada. This retrospective study compared Maghrebi children living in Quebec to the countries of origin, Morocco, Algeria, and Tunisia. The annualized incidence rate in Quebec (18.49/year/100 000 children under 5 years of age) was 4 to 12 times higher than in Tunisia, Morocco, and Algeria (0.95, 4.52, and 3.15, respectively). The prevalence of incomplete diagnostic criteria was higher in Quebec at 39%, Morocco 43%, and Tunisia 39% compared to Algeria at 8%, with minimal delayed diagnosis (7%) only in Quebec compared to 30%, 35%, and 62%, respectively (P countries of origin seems due to underdiagnosis, which represents a public health concern in those countries. PMID:27336001

  4. Emergency coronary artery bypass grafting for cardiogenic shock due to left main coronary artery obstruction caused by Kawasaki disease in a 4-year-old boy.

    Science.gov (United States)

    Tamaki, Wataru; Tsuda, Etsuko; Nakajima, Hiroyuki; Kobayashi, Junjiro; Shiono, Junko

    2014-04-01

    We describe the case of a 4-year-old boy whose clinical course after Kawasaki disease resulted in coronary artery bypass grafting (CABG) due to acute myocardial infarction (AMI) causing cardiogenic shock. He had developed an ischemic cardiomyopathy due to severe localized stenosis of the left main coronary artery (LCA) and went into cardiogenic shock due to AMI on the day before a scheduled operation. He underwent successful emergency CABG within 4 h of MI. Postoperatively his neurological status was intact. This is the first report of a successful emergency CABG in a small child with cardiogenic shock due to LCA occlusion. CABG should be undertaken in small patients when appropriate indications exist, if bodyweight is >10 kg. PMID:24730632

  5. Changes in endothelium-derived vascular regulatory factors during dobutamine-stress-induced silent myocardial ischemia in patients with Kawasaki disease.

    Science.gov (United States)

    Hino, Y; Ohkubo, T; Katsube, Y; Ogawa, S

    1999-07-01

    The changes in endothelium-derived vascular regulatory factors during dobutamine (DOB)-induced myocardial ischemia (MI) were investigated in 21 patients with Kawasaki disease aged from 11 months to 18 years. They were classified into an ischemia group (8 patients) and a non-ischemia group (13 patients) based on the results of 99mTc myocardial scintigraphy and DOB stress 99mTc myocardial scintigraphy. In the ischemia group, MI was relatively mild, because there were ischemic changes on the electrocardiogram and no significant symptoms during DOB stress. Catheters were positioned near the orifice of the coronary artery (Ao) and at the coronary sinus (CS). Hemodynamics and the blood concentrations of lactic acid and endothelin-1, as well as NO3-, 6-keto-prostaglandin F1alpha, and thromboxane B2, (which are inactive metabolites of nitric oxide, prostaglandin I2 and thromboxane A2, respectively), were measured at rest and after DOB stress (maximum dose: 30 microg x kg(-1) x min(-1)). The CS/Ao ratio was determined for all parameters. The rate-pressure product, an index of work load, and the cardiac index were significantly increased by DOB stress in both groups. Coronary angiography showed no vasospasm of the epicardial coronary arteries before or after DOB stress in either group. The plasma concentrations of endothelin-1 and 6-keto-prostaglandin F1alpha were significantly increased after DOB stress in the ischemia group, but the serum concentration of NO did not increase. The lack of an increase in NO production during DOB stress may have contributed to the worsening of MI in patients with Kawasaki disease. PMID:10462014

  6. Research of echocardiography on coronary artery lesion of Kawasaki disease%川崎病冠状动脉损害的超声研究现状

    Institute of Scientific and Technical Information of China (English)

    王嘉俊

    2012-01-01

    Coronary artery lesions caused by Kawasaki disease have main effect to its prognosis.The lesions can be showed as arteriitis,arteriectasis,aneurysm and arterial stenosis stenosis.Ultrasonic cardiography is the first choice to detect the lesions,especially in dilatation and aneurysm formation of the coronary artery.It can definitely show the diameter and the degree of dilatation of the coronary artery.With the development of ultrasonic equipments as well as the applications of new technique,ultrasonic cardiography is playing an important role in Kawasaki disease of early diagnosis,therapeutic effect,prognosis estimation and Iongterm follow -up.%川崎病冠状动脉损害是影响患儿预后的主要因素.冠状动脉损害可表现为动脉炎、动脉扩张、动脉瘤和动脉狭窄等.超声心动图检查是检测川崎病并发冠状动脉损害的首选方法,尤其对冠状动脉扩张和冠状动脉瘤形成的诊断具有特异性,能清晰地显示冠状动脉内径及扩张程度.随着超声设备的升级及相关新技术的应用,超声心动图对川崎病的早期诊断、疗效观察、评估预后和长期随访发挥着愈来愈重要的作用.

  7. Kawasaki Disease (For Parents)

    Science.gov (United States)

    ... dry, cracked lips swollen tongue with a white coating and big red bumps (called "strawberry tongue") sore, ... child is treated with intravenous (IV) doses of gamma globulin (purified antibodies), an ingredient of blood that ...

  8. Estudo prospectivo das complicações da Doença de Kawasaki: análise de 115 casos Prospective study of Kawasaki Disease complications: review of 115 cases

    Directory of Open Access Journals (Sweden)

    Natália Ribeiro de M. Alves

    2011-06-01

    após a fase aguda da doença, eventualmente resultando em sequelas permanentes. Quanto mais precoce forem o diagnóstico e a intervenção terapêutica com a administração de IgG IV, menor será a ocorrência de complicações. Presença de trombocitose, anemia e de atividade inflamatória elevada e por tempo prolongado são fatores de risco para o aparecimento de complicações.OBJECTIVE: To draw attention to complications that might arise in any Kawasaki disease (KD stage, risk factors contributing to the onset of complications and possible transient or permanent disease sequelae. METHODS: Prospective study (clinical cohort conducted between April 2002 and April 2009 of 115 patients with KD admitted to the Pediatric Rheumatology Clinic of the General Hospital of the Federal District, Brazil. All patients were sequentially assessed with clinical and laboratory examinations, Doppler echocardiography, imitanciometry, auditory evoked potentials, psychological evaluation, ophthalmologic examination and, in one patient with chorea, cerebral magnetic resonance angiography. In all patients, a questionnaire assessing the possible presence of cognitive, emotional, behavioral and social disorders was applied. RESULTS: Twenty-five patients (21.7% had coronary aneurisms. Thirty eight patients (33% had a sensorineural auditory loss during the acute and subacute phases of the disease and 13 patients (11.3% maintained the auditory loss six months after the first assessment. Other complications observed were as follows: facial palsy in one patient (0.9%, ataxia in acute and subacute phases in 11 (9.5%; 15 patients had ophthalmologic complications (13.2%, with uveitis in 13, papilledema in one patient, and conjunctival hemorrhage in another patient. One patient experienced chorea (0.9%, with a magnetic resonance angiography showing changes consistent with cerebral ischemia. In one patient, a thoracic aorta aneurism was found (0.9% and another patient had a necrotizing vasculitis

  9. 血管内皮祖细胞与川崎病冠状动脉并发症的血管新生%Endothelial progenitor cells and the neovascularization in patients with coronary aneurysms due to Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    段超; 杜忠东

    2011-01-01

    @@ 川崎病(Kawasaki disease ,KD)是一种主要发生在5岁以下婴幼儿的急性发热出疹性疾病,冠状动脉(简称冠脉)损害是其最严重的并发症,严重时可引起心肌梗死、猝死等,严重威胁儿童的身心健康.

  10. Advances in epidemiology, etiology and pathogenesis of Kawasaki disease%川崎病流行病学、病因和发病机制的新进展

    Institute of Scientific and Technical Information of China (English)

    杨波; 朱义杰(综述); 罗军; 张召艳(审校)

    2014-01-01

    川崎病(KD)是一种以急性全身血管炎为主要病理变化的疾病,好发于6个月至4岁的婴幼儿。KD主要累及冠状动脉,导致动脉瘤和血栓形成,引起严重的并发症甚至猝死。目前KD的病因和发病机制尚不完全清楚。文章就KD的流行病学、病因、发病机制及易感因素等新进展作一综述。%Kawasaki disease (KD) is an acute systemic vasculitis that primarily affects young children between 6 months and 4 years old. Coronary arteritis is an important clinical feature of KD because it is associated with aneurysms and thromboembolic events that can lead to severe complications, even sudden death. To date, the etiology and pathogenesis of Kawasaki disease has not been understood completely. In this paper, we will review the recent advances in epidemiology, etiology, pathogenesis and genetic susceptibility of Kawasa-ki disease.

  11. A rare disease in an atypical location - Kimura's Disease of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Lam, Alan Cheuk Si; Lau, Vince Wing Hang [Queen Mary Hospital, Department of Radiology, Hong Kong (China); Au Yeung, Rex Kwok Him [University of Hong Kong, Department of Pathology, Li Ka Shing Faculty of Medicine, Hong Kong (China)

    2015-12-15

    Kimura's disease is a rare chronic inflammatory disorder predominantly affecting young Asian male patients, occurring mainly in the head and neck regions. Kimura's disease of the upper extremity is extremely rare, and previous case reports in the literature show similar imaging characteristics with consistent location at the medial epitrochlear region, predominantly with unilateral involvement. We present the first reported case of Kimura's disease affecting the anterolateral aspect of the upper arm, sparing the medial epitrochlear region, illustrating that with typical MR appearance and serology, the involvement of this rare disease in an atypical location still warrants consideration of this diagnosis. There was also bilateral asymmetrical involvement in our patient, suggesting the possibility of a propensity for Kimura's disease affecting the upper extremities to have bilateral involvement, which may necessitate imaging of the clinically asymptomatic contralateral limb in these patients for early lesion identification and treatment. (orig.)

  12. Usefulness of Tc-99m HMPAO-labeled WBC heart scan to predict impaired ventricular function and coronary artery dilation in children with Kawasaki disease.

    Science.gov (United States)

    Hsu, Hsiu-Bao; Fu, Yun-Ching; Tsai, Shih-Chuan; Yen, Ruoh-Fang; Hwang, Betau

    2003-11-01

    Forty-nine children with Kawasaki disease were included in this study. Based on the severity of carditis as determined by Tc-99m HMPAO-labeled WBC heart scan, the children were separated into two groups. Group A (n=24) had significant carditis and group B (n=25) did not have significant carditis. The left and right ventricular ejection fractions (LVEF and RVEF) were evaluated by equilibrium multigated blood pooling ventriculography. Diameters of the left and right coronary arteries (LCA and RCA) were measured by two-dimensional echocardiography. The results showed that group A had lower LVEF and RVEF, but larger diameters of the LCA and RCA than those of group B patients. The sensitivity of significant carditis to predict left ventricular dysfunction, right ventricular dysfunction, LCA dilation and RCA dilation was 88.9, 70.6, 75, and 71.4%, respectively; the specificities were 100, 100, 100, and 67.9%, respectively. Our findings suggest that significant carditis determined by Tc-99m HMPAO-labeled WBC heart scan can accurately predict impaired ventricular function and coronary artery dilation. PMID:14602219

  13. Research progress of non-cardiovascular complications in Kawasaki disease%川崎病非心血管系统并发症研究进展

    Institute of Scientific and Technical Information of China (English)

    翁海美; 项如莲

    2009-01-01

    @@ 川崎病(Kawasaki disease,KD)目前己取代风湿热成为儿童后天性心脏病最常见的病因.KD的病理改变为全身性血管炎,累及多脏器,包括心脏、脑、肝脏、胃肠道、肺、肾脏等.其中心血管病变最常见也最严重,未经治疗的冠状动脉损害(coronary artery lesions,CAL)占20%~25%左右,部分可形成冠状动脉瘤(coronary artery aneurysm,CAA),后期可发生冠状动脉狭窄或血栓形成,甚至导致心肌梗死,目前已引起临床广泛重视.但心血管外其他系统损害却未得到足够重视,特别在不完全KD,其往往以心血管外表现为首发症状,极易造成临床的误诊、漏诊,延误治疗,严重影响患儿预后.本文就KD非心血管系统并发症作一综述.

  14. Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Nielsen, J.E.; Stokholm, J.;

    2008-01-01

    BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic...... features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer...... mutation, APP Thr714Ala (the Iranian mutation). CONCLUSIONS: The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations Udgivelsesdato...

  15. Epilepsy and other central nervous system diseases in atypical autism: a case control study

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2011-01-01

    There is an increased but variable risk of epilepsy in autism spectrum disorders. The objective of this study is to compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 89 individuals diagnosed as children with atypical autism (AA...

  16. Prediction of nonresponsiveness to medium-dose intravenous immunoglobulin (1 g/kg) treatment: an effective and safe schedule of acute treatment for Kawasaki disease

    Science.gov (United States)

    Moon, Kyung Pil; Kim, Beom Joon; Lee, Kyu Jin; Oh, Jin Hee; Han, Ji Whan; Lee, Kyung Yil

    2016-01-01

    Purpose Medium-dose (1 g/kg) intravenous immunoglobulin (IVIG) is effective in the majority of patients with Kawasaki disease (KD) but some patients who do not respond to medium-dose IVIG are at high risk for the development of coronary artery lesions (CALs). The purpose of this study was to identify the clinical predictors associated with unresponsiveness to medium-dose IVIG and the development of CALs. Methods A retrospective study was performed in 91 children with KD who were treated with medium-dose IVIG at our institution from January 2004 to December 2013. We classified the patients into responders (group 1; n=68) and nonresponders (group 2; n=23). We compared demographic, laboratory, and echocardiographic data between the 2 groups. Results Multivariate logistic regression analysis identified 6 variables as predictors for resistance to medium-dose IVIG. We generated a predictive scoring system assigning 1 point each for percentage of neutrophils ≥65%, C-reactive protein≥100 mg/L, aspartate aminotransferase≥100 IU/L, and alanine aminotransferase≥100 IU/L, as well as 2 points for less than 5 days of illness, and serum sodium level≤136 mmol/L. Using a cutoff point of ≥4 with this scoring system, we could predict nonresponsiveness to medium-dose IVIG with 74% sensitivity and 71% specificity. Conclusion If a patient has a low-risk score in this system, medium-dose IVIG can be recommended as the initial treatment. Through this process, we can minimize the adverse effects of high-dose IVIG and incidence of CALs.

  17. Detection of coronary artery damage at sub-acute phase of Kawasaki disease with myocardial perfusion imaging and two-dimensional echocardiography

    International Nuclear Information System (INIS)

    Objective: To compare the diagnostic values of rest 99Tcm-MIBI MPI and two-dimensional echocardiography (2-DE) for the detection of coronary artery damage at sub-acute phase of Kawasaki disease (KD). Methods: Twenty-four children (14 males and 10 females, mean age: (2.50±2.19) years) with KD at sub-acute phase were studied between August 1999 and March 2012. All patients underwent rest 99Tcm-MIBI MPI and 2-DE. χ2 and Wilcoxon rank sum tests with SPSS 13.0 were used for data analysis. Results: The positive rate of MPI was 66.67% (16/24), significantly higher than that of 2-DE (37.50%,9/24; χ2=4.00, P<0.05). There was no significant difference between the duration for definite diagnosis by MPI and 2-DE ((13.79±2.86) vs (15.89±5.60) d; Z=-0.746, P>0.05). Eight of 24 patients (33.33%) had positive results for both MPI and 2-DE, and 7 patients (29.17%) had negative findings for both methods. Eight patients (8/24, 33.33%) were positive on MPI but negative on 2-DE, and 1 patient (1/24, 4.17%) was positive on 2-DE but negative on MPI. The areas of myocardial ischemia detected by MPI in 4 patients were consistent with the findings by 2-DE. Conclusions: Rest 99Tcm-MIBI MPI is a valuable noninvasive method to evaluate the coronary circulation and myocardial ischemia in KD patients at sub-acute phase. In combination with MPI, 2-DE might provide more comprehensive information for the evaluation of KD. (authors)

  18. Atypical presentation of acute and chronic coronary artery disease in diabetics

    Institute of Scientific and Technical Information of China (English)

    Hadi; AR; Hadi; Khafaji; Jassim; M; Al; Suwaidi

    2014-01-01

    In patients with diabetes mellitus, cardiovascular disease is the principal cause of mortality and chest pain is the most frequent symptom in patients with stable and acute coronary artery disease. However, there is little knowledge concerning the pervasiveness of uncommon presentations in diabetics. The symptomatology of acute coronary syndrome, which comprises both pain and non-pain symptoms, may be affected by traditional risk factors such as age, gender, smoking, hypertension, diabetes, and dyslipidemia. Such atypical symptoms may range from silent myocardial ischemia to a wide spectrum of non-chest pain symptoms. Worldwide, few studies have highlighted this under-investigated subject, and this aspect of ischemic heart disease has also been under-evaluated in the major clinical trials. The results of these studies are highly diverse which makes definitive conclusions regarding the spectrum of atypical presentation of acute and even stable chronic coronay artery disease difficult to confirm. This may have a significant impact on the morbidity and mortality of coronary artery disease in diabetics. In this up-to-date review we will try to analyze the most recent studies on the atypical presentations in both acute and chronic ischemic heart disease which may give some emphasis to this under-investigated topic.

  19. Enfermedad de Kawasaki

    Directory of Open Access Journals (Sweden)

    Viviana Molina Alpízar

    2015-03-01

    Full Text Available La enfermedad de Kawasaki es una vasculitis aguda sistémica, afectando predominantemente arterias de mediano calibre, incluyendo las arterias coronarias, la mayoría de los casos ocurren en niños menores de 5 años, con una leve predominancia en el sexo masculino, muestra un pico estacional. Es la principal causa de cardiopatía adquirida en los países desarrollados. La etiología es desconocida y la enfermedad tiene 4 fases: febril aguda, subaguda, convalecencia y crónica. El diagnóstico de la enfermedad es clínico. El tratamiento con inmunoglobulina intravenosa y aspirina dentro de los 10 días posteriores al inicio de la enfermedad disminuye la incidencia de aneurismas coronarios a menos de 5%.

  20. Celiac disease in toddler with atypical onset. Case report.

    Science.gov (United States)

    Iacob, Daniela; Fufezan, Otilia; Farcau, Dorin; Samasca, Gabriel; Slavcovici, Adriana; Gheban, Dan

    2016-03-01

    Celiac disease is a chronic immune-mediated disorder induced in genetically susceptible individuals after ingestion of gluten proteins. An early diagnosis is of highest importance. Ultrasound might show small-bowel intussusception. We present a toddler with one month history of diarrhea and abdominal ultrasound showing ileo-ileal intussusception. Specific serological markers for celiac disease were positive. The duodenal endoscopy showed normal architecture but pathology indicated fully developed celiac disease (Marsh 3c). In conclusion, toddlers, who have even a short history of diarrhea with ultrasound showing ileo-ileal intussusception, can be suspected of celiac disease by positive serologic markers and can be confirmed by duodenal biopsy and pathology. PMID:26962564

  1. Diseases of the gastrointestinal tract in individuals diagnosed as children with atypical autism

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik Birkebæk; Isager, Torben; Rich, Bente

    2013-01-01

    The purpose of this study is to compare the prevalence and types of diseases (International Classification of Mental and Behavioural Disorders, 10th Edition codes K20-K93) relating to the gastrointestinal tract in a clinical sample of 89 individuals diagnosed as children with atypical autism....../pervasive developmental disorder not otherwise specified with 258 controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 32.9 years, and mean age at the end of the observation period was 48.5 years. Among the 89 cases...... with atypical autism, a total of 22 (24.7%) were registered with at least one diagnosis of any disease of the gastrointestinal tract, against 47 of 258 (18.2%) in the comparison group (p = 0.22; odds ratio = 1.5; 95% confidence interval = 0.8-2.6). Without reaching statistical significance, the rate of...

  2. Atypical presentation of chronic granulomatous disease with Burkholderia cepacia.

    Science.gov (United States)

    Vining, Mac; Sharma, Nirupma; Guill, Margaret

    2014-01-01

    Chronic granulomatous disease (CGD) is a rare inherited disorder of neutrophil oxidative burst. In patients with CGD, phagocyte destruction of catalase-producing organisms is impaired, resulting in recurrent and potentially fatal infections. Burkholderia cepacia, a catalase-producing organism, is known to infect patients with dysfunctional immune systems. We report a case of a 3-year-old boy with this rare infection that unravelled the diagnosis of CGD. PMID:25103315

  3. Atypical Cat-Scratch Disease in Children: Report of Seven Presentations Ranging From Hepatosplenic Disease to Horner Syndrome

    Directory of Open Access Journals (Sweden)

    Gilliaux

    2016-01-01

    Full Text Available Introduction Cat scratch disease (CSD is an infectious disease caused by the Gram-negative rod Bartonella henselae (BH. It usually leads to subacute loco-regional lymphadenitis occasionally associated with fever. In most of the cases, it resolves spontaneously within 4 - 6 weeks. However, CSD has also been associated with other atypical presentations. Case Presentation We reported a series of seven children with unusual symptoms of CSD. In particular, we described the case of a child with ptosis, miosis and enophtalmy, suggesting Horner syndrome, associated with cervical lymphadenitis. Cat scratch was mentioned in only one patient, while four of them mentioned a recent contact with cats. We reviewed and discussed the incidence of these atypical presentations of CSD as well as the therapeutic approaches recommended and the available diagnostic tools. Conclusions This paper highlighted the need to exclude CSD in children with unexplained symptoms such as prolonged fever, hepatosplenic lesion and osteomyelitis.

  4. Study on the Relationship Between Plasma Procalcitonin and Kawasaki Dis-ease Related with Bacterial Infection%血浆前降钙素与细菌性川崎病的关系研究

    Institute of Scientific and Technical Information of China (English)

    徐小桥

    2014-01-01

    Objective To study the relationship between the level of plasma procalcitonin and kawasaki disease related with bacte-rial infection and its clinical value. Methods 86 cases of kawasaki disease diagnosed and treated in our hospital from June, 2011 to December, 2013 were selected as the object of the study by sampling and analyzed professionally and retrospectively. Results The plasma procalcitonin level of group with positive pathogens was significantly higher than that of group with negative pathogens. And plasma procalcitonin level of patients with bacterial infection was also significantly higher than that of patients with non-bac-terial infection, and the difference was statistically significant (P<0.05). Conclusion Plasma procalcitonin level is one of the main indicators for the diagnosis of kawasaki disease caused by bacterial infection or non-bacterial infection. It provides important refer-ence for the scientific diagnosis and treatment of the patients.%目的:研究血浆前降钙素水平与细菌感染相关川崎病的关系及临床价值。方法从该院2011年6月-2013年12月诊治的川崎病病例中,抽样选取86例作为该研究的对象,进行专业的回顾性分析。结果病原体阳性组的血浆前降钙素水平明显高于病原体阴性组,且细菌感染患者的血浆前降钙素水平也明显高于非细菌感染患者,差异有统计学意义(P<0.05)。结论血浆前降钙素水平是诊断细菌感染相关川崎病与非细菌感染相关川崎病的主要指标之一,为患者的科学诊治提供了重要的参考依据。

  5. Facial Palsy in Kawasaki Syndrome; Review and a Case Report

    Directory of Open Access Journals (Sweden)

    MH. Moradi Nejad

    2003-07-01

    Full Text Available Facial nerve palsy, a very rare complication of Kawasaki syndrome, has been reported in only 25 patents. None of the 25 previous reported cases with this complication was treated with IVIG. We treated a 24-month-old boy with bilateral coronary artery aneurysms due to Kawasaki syndrome. In our patient, whom we treated with Aspirin and IVIG, duration of disease was 7-9 days. He developed marked unilateral peripheral facial nerve palsy on day 3 of illness. This treatment led to complete resolution of facial nerve palsy within 48 hours. Review of pervious cases demonstrates that children with Kawasaki–associated facial nerve palsy have more than twice the risk for coronary artery aneurysm (52% vs 25% as that of children without facial nerve palsy. Unexplained facial nerve palsy in young children with a prolonged febrile illness should provoke consideration of Kawasaki syndrome and Echocardiography to exclude coronary artery aneurysms. Although facial nerve palsy appears likely to be resolved in all patients surviving the acute phase of Kawasaki syndrome, treatment with IVIG appears to shorten considerably the time for full recovery and provides an important clue to the mechanism of neurological injury in this illness.

  6. Current research status of catheter interventional treatment for coronary arterial lesions caused by Kawasaki disease%川崎病冠状动脉病变介入疗法的研究现状

    Institute of Scientific and Technical Information of China (English)

    黄平; 胡大一; 金小燕; 金丽玲

    2002-01-01

    @@ 川崎病(Kawasaki disease, KD)是一种病因不明,以全身中、小动脉炎性病变为主要病理改变的急性发热性疾病,常见于5岁以下的小儿,以冠状动脉(简称冠脉)病变为其最严重的并发症.KD急性期冠脉瘤(coronary artery aneurysm, CAA)的发生率约为10%~20%.随访研究表明,约50%的CAA于病后1~2年内自行消退,80%的轻、中度CAA于病后5年内消退.CAA直径>5 mm者可能进展为狭窄,且瘤体越长可能性越大.

  7. Clinical and Etiological Characteristics of Atypical Hand-Foot-and-Mouth Disease in Children from Chongqing, China: A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Xiang Yan

    2015-01-01

    Full Text Available Background. Hand-foot-and-mouth disease (HFMD is a disease that had similar manifestations to chickenpox, impetigo, and measles, which is easy to misdiagnose and subsequently causes delayed therapy and subsequent epidemic. To date, no study has been conducted to report the clinical and epidemiological characteristics of atypical HFMD. Methods. 64 children with atypical HFMD out of 887 HFMD children were recruited, stool was collected, and viral VP1 was detected. Results. The atypical HFMD accounted for 7.2% of total HFMD in the same period (64/887 and there were two peaks in its prevalence in nonepidemic seasons. Ten children (15.6% had manifestations of neurologic involvement, of whom 4 (6.3% were diagnosed with severe HFMD and 1 with critically severe HFMD, but all recovered smoothly. Onychomadesis and desquamation were found in 14 patients (21.9% and 15 patients (23.4%, respectively. The most common pathogen was coxsackievirus A6 (CV-A6 which accounted for 67.2%, followed by nontypable enterovirus (26.6%, enterovirus 71 (EV-A71 (4.7%, and coxsackievirus A16 (A16 (1.5%. Conclusions. Atypical HFMD has seasonal prevalence. The manifestations of neurologic involvement in atypical HFMD are mild and usually have a good prognosis. CV-A6 is a major pathogen causing atypical HFMD, but not a major pathogen in Chongqing, China.

  8. Cholinesterase inhibitors for Parkinson’s disease-related visual hallucinations unresponsive to atypical antipsychotics

    Directory of Open Access Journals (Sweden)

    Tomasz Sobow

    2007-03-01

    Full Text Available Introduction: Considering lack of accepted guideline in cases of Parkinson’s disease-related visual hallucinations with poor response or intolerance to antipsychotics, and their possible cholinergic pathogenesis, the trial with cholinesterase inhibitors seems to be legitimated. Material and methods: Five patients with PD (with or without dementia complicated by VH and unresponsive to atypical antipsychotics were offered a 12-week, open-label trial of a cholinesterase inhibitor. Results: All 5 subjects completed the trial with no major adverse effects and, noteworthy, no discontinuations due to adverse events. VH resolved in 4 subjects and were markedly diminished in one person. Neither changes in UPDRS scores nor exaggeration of subjective complaints about extrapyramidal symptoms were noted during treatment. Conclusions: Cholinesterase inhibitors, rivastigmine or donepezil, might represent a useful alternative to antipsychotics for patients with PD accompanied by VH even in the absence of dementia.

  9. 运用Delphi法确立川崎病中医基本证候分类的研究%Using Delphi Method to Establish TCM syndrome classification of Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    王文革; 申广生; 汪受传

    2011-01-01

    Objective: To screen out the TCM syndrome classification indices of Kawasaki disease by Delphi method.Methods:Two rounds of questionnaire survey were carried out by 40 experts according to Delphi method. The data was analyzed with SPSS software for positive degree, concentricity and coordination. Results:The recovery rate of the first round questionnaire was 90.0% and that of the second round was 92.5%. The variance coefficient of syndrome of disease involving weifen and qifen, syndrome of flaring heat in qifen and yingfen, syndrome of deficiency of both qi and yin were smaller than 0.20. The variance coefficient of syndrome of lingering heat due to deficiency of yin was 0.576 of the second round questionnaire. Conclusions:Syndrome of disease involving weifen and qifen, syndrome of flaring heat in qifen and yingfen, syndrome of deficiency of both qi and yin could be taken as the TCM syndrome classification indices of Kawasaki disease.%目的:运用德尔菲法(Delphi法)筛选川崎病中医基本证候分类的指标.方法:通过Delphi法对全国40位专家进行两轮问卷调查,利用SPSS软件,对问卷反馈的数据进行积极度、集中程度、协调程度的统计与评价.结果:第1轮问卷回收率90.0%,第2轮问卷回收率92.5%.第2轮问卷邪在卫气证、气营两燔证、气阴两伤证3项指标的变异系数(CV)均在0.20以内,热恋阴伤证的CV值为0.576.结论:邪在卫气证、气营两燔证、气阴两伤证可作为川崎病的基本证候分类.

  10. Typical and atypical symptoms of gastro esophageal reflux disease: Does Helicobacter pylori infection matter?

    Institute of Scientific and Technical Information of China (English)

    Laurino; Grossi; Antonio; Francesco; Ciccaglione; Leonardo; Marzio

    2015-01-01

    AIM: To analyze whether the presence of Helicobacter pylori(H. pylori) infection could affect the quality of symptoms in gastro-esophageal reflux disease(GERD) patients. METHODS: one hundred and forty-four consecutive patients referred to our Unit for suspected GERD were recruited for the study. All patients underwent esophageal p H-metric recording. For those with a positive test, C13 urea breath test was then performed to assess the H. pylori status. GERD patients were stratified according to the quality of their symptoms and classified as typical, if affected by heartburn and regurgitation, and atypical if complaining of chest pain, respiratory and ears, nose, and throat features. H. pylori-negative patients were also asked whether they had a previous diagnosis of H. pylori infection. If a positive response was given, on the basis of the time period after successful eradication, patients were considered as "eradicated"(E) if H. pylori eradication occurred more than six months earlier or "recently eradicated" if the therapy had been administered within the last six months. Patients without history of infection were identified as "negative"(N). χ2 test was performed by combining the clinical aspects with the H. pylori status.RESULTS: one hundred and twenty-nine of the 144 patients, including 44 H. pylori-positive and 85 H. pylori-negative(41 negative, 21 recently eradicated, 23 eradicated more than 6 mo before), were eligible for the analysis. No difference has been found between H. pylori status and either the number of reflux episodes(138 ± 23 vs 146 ± 36, respectively, P = 0.2, not significant) or the percentage of time with pH values < 4(6.8 ± 1.2 vs 7.4 ± 2.1, respectively, P = 0.3, not significant). The distribution of symptoms was as follows: 13 typical(30%) and 31 atypical(70%) among the 44 H. pylori-positive cases; 44 typical(52%) and 41 atypical(48%) among the 85 H. pylori-negative cases,(P = 0.017 vs H. pylori +; OR = 2.55, 95%CI: 1

  11. Atypical manifestations in Brazilian patients with neuro-Behçet's disease.

    Science.gov (United States)

    Dutra, Lívia Almeida; Gonçalves, Célio Roberto; Braga-Neto, Pedro; Pedroso, José Luiz; Gabbai, Alberto Alain; Barsottini, Orlando Graziani Povoas; de Souza, Alexandre Wagner Silva

    2012-06-01

    Type and frequency of systemic and neurologic manifestations of Behçet's disease (BD) vary with ethnicity. In Brazil, BD occurs as sporadic cases. We describe clinical and radiological features of 36 Brazilian patients of mixed ethnicity with neuro-Behçet's disease (NBD). Medical records of 178 BD patients were reviewed and 36 (20%) NBD patients were identified. Twenty-one NBD patients (58.3%) were female and 27 (75%) presented with parenchymal manifestations. Brainstem involvement was the most common neurologic syndrome (41.7%). Seizures (27.8%), isolated aseptic meningitis (16.7%), optic neuropathy (ON) (16.7%), cerebral venous thrombosis (CVT) (8.3%), peripheral neuropathy (2.8%), and spinal cord involvement (5.6%) were other neurologic manifestations observed among Brazilian NBD patients. Eighteen (50%) had at least one relapse, and isolated aseptic meningitis was the most common relapsing manifestation. No significant differences concerning the number of relapses between parenchymal and non-parenchymal groups were found. A multivariate model including disease duration, cell count in spinal fluid, cyclosporine use, immunosuppressive use at disease onset, age at NBD onset, and ON did not reveal any significant associations with NBD relapse. There was a low frequency of CVT and an unexpected higher number of isolated aseptic meningitis. Brazilian NBD patients present more parenchymal and atypical manifestations, and relapse more often than NBD patients from other populations. PMID:22169955

  12. The diagnostic value of ultrasonic cardiogram in coronary artery lesions resulting from Kawasaki disease%超声心动图对小儿川崎病冠状动脉病变的诊断价值

    Institute of Scientific and Technical Information of China (English)

    余启军

    2015-01-01

    Objectives:To explore the diagnostic value of ultrasound cardiogram in coronary artery lesions resulting from Kawasaki disease. Methods:Doppler ultrasound technique was used to detect 26 cases of coronary artery lesions resulting from Kawasaki disease treated from October 2006 to March 2014 and to observe the inner diameter and wall thickness of the coronary artery, echo intensity and whether there was an aneurysm formed. Results:The display rate was 100 % for the left main coronary artery and right coronary artery in the healthy group;15 cases (57. 7 %) of coronary artery lesions were detected in the group with coronary artery disease , including 14 cases of coronary artery diameter expansion, 2 cases of coronary artery inner diameter expansion with intimal thickening and pericardial effusion respectively, 1 case of right coronary artery aneurysm;the earliest onset of coronary artery lesions occurred in the first 5-7 days. Conclusion:It is safe, convenient, fast and visual to use ultrasound car-diogram for diagnosing coronary artery lesions resulting from Kawasaki disease, which is of diagnostic value. It can be considered to have the priority in the imaging test , but it's a bit difficult to check the damage to the distal coronary artery.%目的:探讨超声心动图对小儿川崎病冠状动脉病变的诊断价值。方法:以50例健康儿童的超声监测值为参照,应用多普勒超声技术对2006年10月至2014年3月进行治疗的26例川崎病冠状动脉病变的患儿进行检测,观察冠状动脉内径、冠状动脉壁厚度、回声的强度及有无动脉瘤形成。结果:健康组左冠状动脉主干及右冠脉显示率为100%,病变组检出冠状动脉病变15例(57.7%),其中冠状动脉内径扩张为14例,冠状动脉内径扩张合并内膜增厚为2例,合并心包积液2例,1例为右冠状动脉瘤。冠脉病变最早发生在起病5~7d。结论:超声心动图用于诊断和随访小儿川崎病冠状动脉病

  13. Expression and function of the atypical cadherin FAT1 in chronic liver disease

    Energy Technology Data Exchange (ETDEWEB)

    Valletta, Daniela; Czech, Barbara [Department of Internal Medicine I, University Hospital Regensburg, Regensburg (Germany); Thasler, Wolfgang E. [Grosshadern Tissue Bank and Center for Liver Cell Research, Department of Surgery, Ludwig-Maximilians-University Munich (Germany); Mueller, Martina [Department of Internal Medicine I, University Hospital Regensburg, Regensburg (Germany); Bosserhoff, Anja-Katrin [Institute of Pathology, University of Regensburg, Regensburg (Germany); Hellerbrand, Claus, E-mail: claus.hellerbrand@ukr.de [Department of Internal Medicine I, University Hospital Regensburg, Regensburg (Germany)

    2012-09-28

    Highlights: Black-Right-Pointing-Pointer The expression of the atypical cadherin FAT1 is increased in chronic liver disease. Black-Right-Pointing-Pointer FAT1 expression goes up during the activation of hepatic stellate cells (HSCs). Black-Right-Pointing-Pointer Activated HSCs are the cellular source of enhanced FAT1 expression in diseased livers. Black-Right-Pointing-Pointer FAT1 enhanced NFkB activity and resistance to apoptosis in activated HSCs. Black-Right-Pointing-Pointer FAT1 is a new therapeutic target for prevention and treatment of hepatic fibrosis. -- Abstract: Hepatic fibrosis can be considered as wound healing process in response to hepatocellular injury. Activation of hepatic stellate cells (HSCs) is a key event of hepatic fibrosis since activated HSCs are the cellular source of enhanced extracellular matrix deposition, and reversion of liver fibrosis is accompanied by clearance of activated HSCs by apoptosis. The atypical cadherin FAT1 has been shown to regulate diverse biological functions as cell proliferation and planar cell polarity, and also to affect wound healing. Here, we found increased FAT1 expression in different murine models of chronic liver injury and in cirrhotic livers of patients with different liver disease. Also in hepatic tissue of patients with non-alcoholic steatohepatitis FAT1 expression was significantly enhanced and correlated with collagen alpha I(1) expression. Immunohistochemistry revealed no significant differences in staining intensity between hepatocytes in normal and cirrhotic liver tissue but myofibroblast like cells in fibrotic septa of cirrhotic livers showed a prominent immunosignal. Furthermore, FAT1 mRNA and protein expression markedly increased during in vitro activation of primary human and murine HSCs. Together, these data indicated activated HSCs as cellular source of enhanced FAT1 expression in diseased livers. To gain insight into the functional role of FAT1 in activated HSCs we suppressed FAT1 in these

  14. Expression and function of the atypical cadherin FAT1 in chronic liver disease

    International Nuclear Information System (INIS)

    Highlights: ► The expression of the atypical cadherin FAT1 is increased in chronic liver disease. ► FAT1 expression goes up during the activation of hepatic stellate cells (HSCs). ► Activated HSCs are the cellular source of enhanced FAT1 expression in diseased livers. ► FAT1 enhanced NFkB activity and resistance to apoptosis in activated HSCs. ► FAT1 is a new therapeutic target for prevention and treatment of hepatic fibrosis. -- Abstract: Hepatic fibrosis can be considered as wound healing process in response to hepatocellular injury. Activation of hepatic stellate cells (HSCs) is a key event of hepatic fibrosis since activated HSCs are the cellular source of enhanced extracellular matrix deposition, and reversion of liver fibrosis is accompanied by clearance of activated HSCs by apoptosis. The atypical cadherin FAT1 has been shown to regulate diverse biological functions as cell proliferation and planar cell polarity, and also to affect wound healing. Here, we found increased FAT1 expression in different murine models of chronic liver injury and in cirrhotic livers of patients with different liver disease. Also in hepatic tissue of patients with non-alcoholic steatohepatitis FAT1 expression was significantly enhanced and correlated with collagen alpha I(1) expression. Immunohistochemistry revealed no significant differences in staining intensity between hepatocytes in normal and cirrhotic liver tissue but myofibroblast like cells in fibrotic septa of cirrhotic livers showed a prominent immunosignal. Furthermore, FAT1 mRNA and protein expression markedly increased during in vitro activation of primary human and murine HSCs. Together, these data indicated activated HSCs as cellular source of enhanced FAT1 expression in diseased livers. To gain insight into the functional role of FAT1 in activated HSCs we suppressed FAT1 in these cells by siRNA. We newly found that FAT1 suppression in activated HSCs caused a downregulation of NFκB activity. This

  15. The long-term prognosis and follow-up of Kawasaki disease with coronary artery lesions%川崎病合并冠状动脉损害的远期转归与随访

    Institute of Scientific and Technical Information of China (English)

    施婷婷

    2010-01-01

    Kawasaki disease (KD) is an acute, self-limited vasculitis of children and the principal cause of acquired heart disease in children in developed countries. The recent follow-up studies of KD revealed that cardiac sequelae had been observed for many years in a minority of patients with KD. Cardiac sequelae especially the coronary artery aneurysm is the leading cause of ischemic heart disease or even the sudden death.The long-term management of KD was developed in many countries in order to prevent the cardiac events.This paper reviews the long-term prognosis and follow-up of KD.%近年对川崎病的追踪随访发现,大部分患儿预后良好,但仍有少数患儿长期遗留心血管后遗症,可发展为缺血性心脏病,一旦发生心肌梗死,病死率高.因此,美国、日本及我国等均制订了相应的川崎病患儿长期随访方案,应用各种随访手段以观察其冠状动脉损害及转归,预防川崎病引起的心血管意外发生.

  16. Epidemiological investigations on the potential transmissibility of a rare disease: the case of atypical scrapie in Great Britain.

    Science.gov (United States)

    Ortiz-Peláez, A; Arnold, M E; Vidal-Diez, A

    2016-07-01

    Multiple cases of atypical scrapie in the same holding and co-existence with classical scrapie have been reported in Great Britain. A two-stage simulation tool was developed by combining a sampling algorithm and a hierarchical Bayesian model to simulate the number of positive cases of atypical scrapie from: (i) random sampling and (ii) using the actual sampled population in Great Britain, being the output probability of detection of flocks with one and more cases. Cluster analysis was conducted to assess the level of geographical over- and under-sampling over the years. The probability of detecting at least two cases of atypical scrapie in the same holding is much lower in simulated random data than in simulated actual data for all scenarios. Sampling bias in the selection of sheep for testing led to multiple sampling from fewer but larger holdings, Scotland, and areas of Wales were under-sampled and the South-West and East of England oversampled. The pattern of atypical scrapie cases observed is unlikely to be explained by a multi-case event epidemiologically linked. The co-existence of classical and atypical scrapie is a rare event with 19 holdings detected in GB and does not suggest an epidemiological link between the two types of disease. PMID:26976340

  17. Cine-CT diagnosis of coronary artery aneurysms in patients with Kawasaki

    International Nuclear Information System (INIS)

    Coronary artery aneurysms (CAA) are the most serious late sequelae of Kawasaki disease, and periodic screening examinations are necessary. Two-dimensional (2D) echocardiography represents the standard screening method; however, visualization of the distal coronary arteries is often limited. This report documents the complimentary role of cine-CT with 2D echocardiography in the evaluation of CAA induced by Kawasaki disease. Six pediatric patients with coronary aneurysms were evaluated with both 2D echocardiography and cine-CT. Cine-CT detected ten of 11 lesions. The one misdiagnosed CAA was one of the two contiguous aneurysms. Owing to intersection thickness, these two discrete aneurysms were interpreted as a solitary aneurysm. Cine-CT detected one CAA not initially visualized on echocardiography. Cine-CT is effective and complementary to 2D echocardigraphy as a noninvasive method for the evaluation of coronary artery aneurysms occurring as sequelae of Kawasaki disease

  18. Kawasakis syndrom hos voksne

    DEFF Research Database (Denmark)

    Roed, Casper; Skinhøj, Peter

    2009-01-01

    of the disease is abrupt onset of high fever, followed by conjunctivitis, lymphadenopathy, rash, oral mucosal erythema and erythema of palms and soles. The diagnosis of KS is based on the presence of fever of at least four-five days' duration, plus four of the remaining criteria. Udgivelsesdato: 2009...

  19. 川崎病患儿冠状动脉的CT血管造影及磁共振血管造影%Computed tomography angiography and magnetic resonance angiography evaluate coronary artery in children with Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    胡喜红; 黄国英

    2014-01-01

    Kawasaki disease can affect the coronary arteries,including coronary artery dilation,aneurysm,stenosis and thrombus.Conventional coronary angiography is the gold standard for coronary artery evaluation,but there are risks associated with its invasive nature and with the exposure to contrast agents and radiation.With the rapid development,computed tomography angiography and magnetic resonance angiography become the noninvasive imaging modalities to evaluate the coronary artery.%川崎病容易累及冠状动脉,可导致冠状动脉扩张、冠状动脉瘤形成、狭窄或闭塞等.经导管冠状动脉血管造影是传统评价冠状动脉病变的方法,但其存在一定的侵入性.近年来CT和磁共振技术迅速发展,CT血管造影和磁共振血管造影逐渐成为评估冠状动脉病变的重要无创检查手段.

  20. Treated with intravenous immunoglobulin in children with Kawasaki disease%川崎病的静脉注射免疫球蛋白治疗

    Institute of Scientific and Technical Information of China (English)

    杜军保; 李晓惠

    2007-01-01

    川崎病(Kawasaki disease,KD)的病因目前尚未完全明了,尽管许多证据表明其发病可能与感染有关,但是尚未被证实。已经证实的是本病急性期存在以免疫活化细胞激活为主要改变的免疫调节异常,主要病理变化为全身性非特异性血管炎,多侵犯冠状动脉,部分患儿形成冠状动脉瘤(Coronary aneurysm,CAA),其中少部分患儿冠状动脉可发生狭窄或血栓,甚至导致心肌梗死,因此成为小儿常见的获得性心脏病。目前本病尚无特异疗法,急性期治疗的目的是控制全身非特异性血管炎症,防止冠状动脉瘤形成及血栓性阻塞。治疗措施及药物包括:静脉注射丙种球蛋白(intravenous immune globulin,IVIG或intravenous gamma globulin,IVGG)、阿司匹林(Asprin,ASA)、糖皮质激素、其他治疗及IVIG无反应者治疗。现就川崎病的静脉注射免疫球蛋白治疗谈以下观点。

  1. Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves′ disease

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2013-01-01

    Full Text Available Paroxysmal non-kinesigenic dyskinesia (PNKD is a rare hyperkinetic movement disorder and falls under the category of paroxysmal movement disorders. In this condition, episodes are spontaneous, involuntary, and involve dystonic posturing with choreic and ballistic movements. Attacks last for minutes to hours and rarely occur more than once per day. Attacks are not typically triggered by sudden movement, but may be brought on by alcohol, caffeine, stress, fatigue, or chocolate. We report a patient with multiple atypical features of PNKD. She had a 7-year history of this condition with onset at the age of 59, and a remote history of Graves′ disease requiring total thyroidectomy. The frequency of attacks in our case ranged from five to six times a day to a minimum of twice per week, and the duration of episode was short, lasting not more than 2 min. Typically, PNKDs occur at a much younger age and have longer attack durations with low frequency. Administering clonazepam worked to reduce her symptoms, although majority of previous research suggests that pharmacological interventions have poor outcomes.

  2. A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

    OpenAIRE

    Nina van Beek; Aikaterini Patsatsi; Yask Gupta; Steffen Möller; Miriam Freitag; Susanne Lemcke; Andreas Recke; Detlef Zillikens; Enno Schmidt; Saleh Ibrahim

    2015-01-01

    The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS) based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. B...

  3. Using atypical symptoms and red flags to identify non-demyelinating disease.

    LENUS (Irish Health Repository)

    Kelly, Siobhan B

    2012-01-01

    Red flags and atypical symptoms have been described as being useful in suggesting alternative diagnoses to multiple sclerosis (MS) and clinically isolated syndrome (CIS); however, their diagnostic utility has not been assessed. The aim of this study was to establish the predictive value of red flags and the typicality\\/atypicality of symptoms at presentation in relation to the final diagnosis of patients referred with suspected MS.

  4. 川崎病冠状动脉病变心肌缺血的诊断方法%Diagnostic methods of myocardial ischemia in Kawasaki disease with coronary artery lesions

    Institute of Scientific and Technical Information of China (English)

    黄美容

    2014-01-01

    Kawasaki disease (KD) without proper treatment,the incidence of coronary artery lesions is up to 25%.Some of them develope of coronary artery aneurysms (CAA),obstructive coronary artery disease(stenosis,occlusion or thrombosis).KD with CAA in children need long term follow-up.Electrocardiogram(ECG) and two-dimensional echocardiography(2DE) are still the basic means of checking for follow-up.KD with CAA who should be preferred magnetic resonance imaging examination.Dobutamine stress echocardiography or coronary angiography should be done with suggestive of myocardial ischemia in ECG or 2DE.%川崎病(KD)未经适当治疗,冠状动脉病变的发生率可达25%.其中部分发展为冠状动脉瘤(CAA)及冠状动脉阻塞性病变(狭窄、闭塞或血栓形成).对KD合并CAA的患儿需进行长期随访.目前仍以心电图(ECG)和二维超声心动图(2DE)为基本检查手段,对KD合并CAA者,应首选磁共振成像检查,ECG和2DE提示有心肌缺血可能时可行多巴酚丁胺负荷超声心动图检查或直接行冠状动脉造影检查,及时发现冠状动脉狭窄,评估心肌缺血程度,为进一步治疗提供依据.

  5. An atypical kinase under balancing selection confers broad-spectrum disease resistance in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Carine Huard-Chauveau

    Full Text Available The failure of gene-for-gene resistance traits to provide durable and broad-spectrum resistance in an agricultural context has led to the search for genes underlying quantitative resistance in plants. Such genes have been identified in only a few cases, all for fungal or nematode resistance, and encode diverse molecular functions. However, an understanding of the molecular mechanisms of quantitative resistance variation to other enemies and the associated evolutionary forces shaping this variation remain largely unknown. We report the identification, map-based cloning and functional validation of QRX3 (RKS1, Resistance related KinaSe 1, conferring broad-spectrum resistance to Xanthomonas campestris (Xc, a devastating worldwide bacterial vascular pathogen of crucifers. RKS1 encodes an atypical kinase that mediates a quantitative resistance mechanism in plants by restricting bacterial spread from the infection site. Nested Genome-Wide Association mapping revealed a major locus corresponding to an allelic series at RKS1 at the species level. An association between variation in resistance and RKS1 transcription was found using various transgenic lines as well as in natural accessions, suggesting that regulation of RKS1 expression is a major component of quantitative resistance to Xc. The co-existence of long lived RKS1 haplotypes in A. thaliana is shared with a variety of genes involved in pathogen recognition, suggesting common selective pressures. The identification of RKS1 constitutes a starting point for deciphering the mechanisms underlying broad spectrum quantitative disease resistance that is effective against a devastating and vascular crop pathogen. Because putative RKS1 orthologous have been found in other Brassica species, RKS1 provides an exciting opportunity for plant breeders to improve resistance to black rot in crops.

  6. Long term follow-up study on Kawasaki disease complicated by coronary arterial aneurysm by coronary angiography and echocardiography in children%儿童川崎病并冠状动脉瘤冠状动脉造影及心脏超声长期随访

    Institute of Scientific and Technical Information of China (English)

    成胜权; 刘建平; 刘丽文; 邓跃林; 孙立军; 牛永春

    2011-01-01

    @@ 川崎病(Kawasaki disease,KD)基本病理改变为全身性血管炎,主要侵犯大、中血管,其中冠状动脉(简称冠脉)是最常受损的血管,冠状动脉瘤(coro-nary artery aneurysm,CAA)和冠状动脉狭窄(简称冠脉狭窄)最为严重,可致缺血性心脏病、心肌梗死和猝死.

  7. Association between polymorphism ofGRIN3A gene and clinical characteristic in children with Kawasaki disease%GRIN3A基因多态性与川崎病的相关性分析

    Institute of Scientific and Technical Information of China (English)

    金向群; 熊志; 祝莹; 童丽娜; 王立琼

    2015-01-01

    ObjectiveTo investigate the association between nucleotide polymorphisms ofGRIN3A gene and clinical characteristic of Kawasaki disease (KD) in children in Han population in central Chinese.MethodsA case-control study was performed. A total of 191 children with KD were recruited and 217 healthy children were served as controls. The distribution of SNP was determined by PCR-RFLP. Arterial lesions were detected by echocardiographic.ResultsThe distribution of three genotypes (CC, CG, GG) in SNP (rs7849782) was statistically difference between KD and control groups (P=0.034), and C allele was associated with KD susceptibility (OR=1.46, 95%CI: 1.10-1.92,P=0.007). In children with KD, the polymorphism of SNP loci was signiifcantly associated with oral mucosa lesions and coronary artery lesion (P0.05). The polymorphism of SNP loci was also associated with the levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) (P0.05);该位点的多态性与患者的血沉以及C反应蛋白(CRP)水平相关(P<0.05)。结论 GRIN3A基因SNP位点(rs7849782)多态性与KD的易感性相关,C等位基因为风险因子;且该SNP位点可能与KD患儿的口腔黏膜以及冠状动脉损伤等特征相关,并可能影响血沉以及CRP水平。

  8. Differential processing of natural scenes in typical and atypical Alzheimer disease measured with a saccade choice task

    Directory of Open Access Journals (Sweden)

    Gauthier Calais

    2014-07-01

    Full Text Available Though atrophy of the medial temporal lobe, including structures (hippocampus and parahippocampal cortex that support scene perception and the binding of an object to its context, appears early in Alzheimer disease (AD few studies have investigated scene perception in people with AD. We assessed the ability to find a target object within a natural scene in people with typical AD and in people with atypical AD (posterior cortical atrophy. Pairs of colored photographs were displayed left and right of fixation for one second. Participants were asked to categorize the target (an animal either in moving their eyes toward the photograph containing the target (saccadic choice task or in pressing a key corresponding to the location of the target (manual choice task in separate blocks of trials. For both tasks performance was compared in two conditions: with isolated objects and with objects in scenes. Patients with atypical AD were more impaired to detect a target within a scene than people with typical AD who exhibited a pattern of performance more similar to that of age-matched controls in terms of accuracy, saccade latencies and benefit from contextual information. People with atypical AD benefited less from contextual information in both the saccade and the manual choice tasks suggesting a higher sensitivity to crowding and deficits in figure/ground segregation in people with lesions in posterior areas of the brain.

  9. Analysis of drug treatment of the coronary embolism in Kawasaki disease%川崎病冠状动脉血栓患儿8例药物治疗分析

    Institute of Scientific and Technical Information of China (English)

    俞惠娟; 朱卫华

    2014-01-01

    Objective To observe the efficacy of drug treatment of coronary aneurysm complicated with embolism in Kawasaki disease (KD). Methods The clinical data of eight KD children with coronary aneurysm and embolism were retrospectively analyzed. Results Eight KD children (six males and two females) at age of 0.25-5.2 years (mean=2.89) ,were diagnosed with gigantic coronary artery aneurysms. The diameter of aneurysm was around 8.3-13.8mm. Thrombosis appeared from 19 days to five months after coronary aneurysms formation. The onset manifestations included sudden chest pain and myocardial infarction with symptoms of heart failure in one case, shock in one case and no symptom in six cases. The maximum diameter of the thrombus was 2.8 mm×15.4 mm in the shape of funicular. Four cases had thrombus in the right coronary artery, two cases in the left coronary artery, and two cases in both sides. The patients underwent anticoagulant therapy taking heparin, urokinase, warfarin, aspirin and dipyridamole. Anticoagulant therapy was successful in 7 cases and the thrombus was completely dissolved in 7 days to more than 4 months. One case had recurrent coronary thrombosis after 4 months. One case died in 12 hours after thrombolysis. Conclusions Coronary thrombosis usually appears in the half year after the onset of KD coronary aneurysm. Thrombolysis therapy takes long time in Kawasaki patients. Breaking off of thrombus are rarely seen.%目的:观察川崎病(KD)冠状动脉瘤并发血栓药物治疗的效果。方法回顾性分析8例KD冠状动脉瘤合并血栓患儿的临床资料。结果8例KD患儿年龄0.2~5.2岁;男6例,女2例。冠状动脉瘤瘤体内径8.3~13.8 mm,血栓发生时间在冠状动脉瘤形成后19 d至5月余。初发症状为突发胸痛1例,有心肌梗死伴心力衰竭症状;休克样症状1例;无症状6例。心脏超声检查发现瘤内血栓最大径2.8 mm×15.4 mm,呈长段条索状。冠状动脉血栓右侧4例,左侧2

  10. 川崎病冠状动脉血栓患儿8例药物治疗分析%Analysis of drug treatment of the coronary embolism in Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    俞惠娟; 朱卫华

    2014-01-01

    目的:观察川崎病(KD)冠状动脉瘤并发血栓药物治疗的效果。方法回顾性分析8例KD冠状动脉瘤合并血栓患儿的临床资料。结果8例KD患儿年龄0.2~5.2岁;男6例,女2例。冠状动脉瘤瘤体内径8.3~13.8 mm,血栓发生时间在冠状动脉瘤形成后19 d至5月余。初发症状为突发胸痛1例,有心肌梗死伴心力衰竭症状;休克样症状1例;无症状6例。心脏超声检查发现瘤内血栓最大径2.8 mm×15.4 mm,呈长段条索状。冠状动脉血栓右侧4例,左侧2例,双侧2例。使用肝素、尿激酶溶栓,华法林、阿司匹林及潘生丁抗凝,抗血小板治疗。7例消溶成功,完全消溶所需要时间7d至4月余。1例4个月后血栓复发;1例发病12 h死亡。结论 KD冠状动脉瘤合并血栓好发于KD发病半年内,药物溶栓治疗需要时间较长,血栓脱落不多见。%Objective To observe the efficacy of drug treatment of coronary aneurysm complicated with embolism in Kawasaki disease (KD). Methods The clinical data of eight KD children with coronary aneurysm and embolism were retrospectively analyzed. Results Eight KD children (six males and two females) at age of 0.25-5.2 years (mean=2.89) ,were diagnosed with gigantic coronary artery aneurysms. The diameter of aneurysm was around 8.3-13.8mm. Thrombosis appeared from 19 days to five months after coronary aneurysms formation. The onset manifestations included sudden chest pain and myocardial infarction with symptoms of heart failure in one case, shock in one case and no symptom in six cases. The maximum diameter of the thrombus was 2.8 mm×15.4 mm in the shape of funicular. Four cases had thrombus in the right coronary artery, two cases in the left coronary artery, and two cases in both sides. The patients underwent anticoagulant therapy taking heparin, urokinase, warfarin, aspirin and dipyridamole. Anticoagulant therapy was successful in 7 cases and the thrombus was completely

  11. Atypical Depression

    Directory of Open Access Journals (Sweden)

    Erhan Ertekin

    2013-09-01

    Full Text Available Atypical depression is defined as a specifier of major depressive disorder. Columbia criteria for atypical depression are commonly used to make a diagnosis. Female sex, onset at early age, chronic course, and higher rate of comorbidity (especially anxiety disorder and bipolar disorder is noteworthy in atypical depression. Although, the atypical depression seems to support the familial genetic transition, there is not any specific study supporting these data. In the treatment of atypical depression, monoamine oxidase inhibitors are reported to be more effective than tricyclic antidepressants. In recent studies, selective serotonin reuptake inhibitors have also proven to be efficient.

  12. Atypical Chikungunya virus infections: clinical manifestations, mortality and risk factors for severe disease during the 2005–2006 outbreak on Réunion

    OpenAIRE

    Economopoulou, A.; Dominguez, M.; Helynck, B.; Sissoko, D.; Wichmann, Ole; Quenel, P; Germonneau, P.; Quatresous, I.

    2008-01-01

    In April 2005, an outbreak of Chikungunya fever occurred on the island of Réunion in the Indian Ocean. During winter 2005, six patients developed meningoencephalitis and acute hepatitis due to Chikungunya virus. Our objectives were to determine the incidence and mortality of atypical Chikungunya viral infections and to identify risk factors for severe disease. A hospital-based surveillance system was established to collect data on atypical Chikungunya cases. Case reports, medical records and ...

  13. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

    Science.gov (United States)

    Cannas, Antonino; Solla, Paolo; Borghero, Giuseppe; Floris, Gian Luca; Chio, Adriano; Mascia, Marcello Mario; Modugno, Nicola; Muroni, Antonella; Orofino, Gianni; Di Stefano, Francesca; Calvo, Andrea; Moglia, Cristina; Restagno, Gabriella; Meloni, Mario; Farris, Rita; Ciaccio, Daniela; Puddu, Roberta; Vacca, Melisa Iris; Melis, Rosanna; Murru, Maria Rita; Tranquilli, Stefania; Corongiu, Daniela; Rolesu, Marcella; Cuccu, Stefania; Marrosu, Maria Giovanna; Marrosu, Francesco

    2015-11-01

    The hexanucleotide repeat expansion GGGGCC in the C9ORF72 gene larger than 30 repeats has been identified as a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent papers investigated the possible pathogenic role and associated clinical phenotypes of intermediate C9ORF72 repeat expansion ranging between 20 and 30 repeats. Some studies suggested its pathogenicity for typical Parkinson's disease (PD), atypical parkinsonian syndromes, FTD with/without parkinsonism, and ALS with/without parkinsonism or with/without dementia. In our study, we aimed to screen patients affected by atypical parkinsonian syndromes or PD complicated by psychosis or dementia for the presence of C9ORF72 repeat expansions, and in unrelated age- and sex-matched healthy controls. Consecutive unrelated patients with atypical parkinsonian syndromes and patients with PD complicated by psychosis or dementia were included in this study. Atypical parkinsonian syndromes were further divided into two groups: one with patients who met the criteria for the classic forms of atypical parkinsonism [multiple system atrophy (MSA), Lewy body disease (LBD), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD)] ;and patients who did not meet the above criteria, named non-classical atypical parkinsonism with or without dementia. Ninety-two unrelated patients (48 men, 44 women) were enrolled. None of the patients was found to be carriers of C9ORF72 repeat expansions with more than 30 repeats. Intermediate 20-30 repeat expansions were detected in four female patients (4.3 %). Three of them presented clinical features of atypical parkinsonian syndromes, two with non-classical atypical parkinsonism and dementia FTD-like, and one with non-classical atypical parkinsonism without dementia. The other patient presented clinical features of typical PD complicated by psychosis. Among 121 control subjects, none presented long or short expansion for the C9ORF

  14. Atypical Scrapie Prions from Sheep and Lack of Disease in Transgenic Mice Overexpressing Human Prion Protein

    OpenAIRE

    Wadsworth, Jonathan D. F.; Joiner, Susan; Linehan, Jacqueline M; Balkema-Buschmann, Anne; Spiropoulos, John; Simmons, Marion M; Griffiths, Peter C; Martin H Groschup; Hope, James; Brandner, Sebastian; Asante, Emmanuel A.; Collinge, John

    2013-01-01

    Public and animal health controls to limit human exposure to animal prions are focused on bovine spongiform encephalopathy (BSE), but other prion strains in ruminants may also have zoonotic potential. One example is atypical/Nor98 scrapie, which evaded statutory diagnostic methods worldwide until the early 2000s. To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue...

  15. Efficacy of iodine-123-15-(p-iodophenyl)-3-R,S-methylpentadecanoic acid single photon emission computed tomography imaging in detecting myocardial ischemia in children with Kawasaki disease

    International Nuclear Information System (INIS)

    To evaluate its efficacy in detecting myocardial ischemia in children, iodine-123-labeled 15-(p-iodophenyl)-3-R,S-methylpentadecanoic acid (BMIPP) myocardial single photon emission computed tomography (SPECT) imaging was performed in 16 pediatric patients with Kawasaki disease (KD, 11 male, 5 female; mean age and range: 13 years 8 months and 8 years 11 months to 17 years 7 months). Five children with chest pain and no cardiac disease were studied as controls (2 male, 3 female; mean age and range: 13 years 4 months and 9 years 4 months to 17 years 11 months). Selective coronary angiography was also performed in the 16 patients to evaluate the location of coronary stenosis and coronary aneurysms. The SPECT images were expressed as polar maps (Bull's eye maps) and the 'defect' area was defined as where the uptake of BMIPP was less than the standardized BMIPP images of the 5 control children. In the 16 patients, 33 segments had coronary aneurysms and 10 (10/33: 30.3%) had significant coronary stenosis on selective coronary angiography. Nine of the 10 (90%) segments with significant coronary stenosis showed a defect on the BMIPP image whereas only 6 of the 23 (26.1%) segments without coronary stenosis showed a defect on BMIPP imaging. The sensitivity of BMIPP SPECT imaging for detection of coronary stenosis was 90% (9/10) and its specificity was 73.9% (17/23), whereas the sensitivity of 201Tl SPECT imaging was 80% (8/10) and its specificity was 60% (14/23). There was no significant difference between the BMIPP and 201Tl SPECT images in either the sensitivity or specificity for the detection of coronary stenosis. In the present series, only one case had discordant BMIPP uptake (BMIPP uptake201Tl uptake) in which there was a large coronary aneurysm and re-canalization after complete obstruction at segment 1 of the right coronary artery. This discordant BMIPP uptake reflects the possibility of ischemic but viable myocardium after re-canalization of a large aneurysm in KD

  16. Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor.

    Science.gov (United States)

    Yang, Xiang; Liu, Xue-Song; Fang, Yuan; Zhang, Xiu-Hui; Zhang, Yue-Kang

    2014-01-01

    The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operations confirmed the diagnosis respectively. Both of the tumors were resected totally. Nevertheless, we had to confess the misdiagnosis as vascular tumor instead of ELST at the initial diagnosis because of the rarity of ELST associated with atypical histological characteristics. The purposes we reported this case were to describe the atypical pathological feature of ELST and the mutation of germline VHL not mentioned in previously literature, furthermore, to foster understanding of ELSTs with the avoidance of the similar misdiagnosis as far as possible in future. PMID:24966975

  17. Disease isolates of Streptococcus pseudopneumoniae and non-typeable S. pneumoniae presumptively identified as atypical S. pneumoniae in Spain.

    Directory of Open Access Journals (Sweden)

    Dora Rolo

    Full Text Available We aimed to obtain insights on the nature of a collection of isolates presumptively identified as atypical Streptococcus pneumoniae recovered from invasive and non-invasive infections in Spain. One-hundred and thirty-two isolates were characterized by: optochin susceptibility in ambient and CO(2-enriched atmosphere; bile solubility; PCR-based assays targeting pneumococcal genes lytA, ply, pspA, cpsA, Spn9802, aliB-like ORF2, and a specific 16S rRNA region; multilocus sequence analysis; and antimicrobial susceptibility. By multilocus sequence analysis, 61 isolates were S. pseudopneumoniae, 34 were pneumococci, 13 were S. mitis, and 24 remained unclassified as non-pneumococci. Among S. pseudopneumoniae isolates, 51 (83.6% were collected from respiratory tract samples; eight isolates were obtained from sterile sources. High frequency of non-susceptibility to penicillin (60.7% and erythromycin (42.6% was found. Only 50.8% of the S. pseudopneumoniae isolates displayed the typical optochin phenotype originally described for this species. None harbored the cpsA gene or the pneumococcal typical lytA restriction fragment length polymorphism. The Spn9802 and the specific 16S rRNA regions were detected among the majority of the S. pseudopneumoniae isolates (n = 59 and n = 49, respectively. The ply and pspA genes were rarely found. A high genetic diversity was found and 59 profiles were identified. Among the S. pneumoniae, 23 were capsulated and 11 were non-typeable. Three non-typeable isolates, associated to international non-capsulated lineages, were recovered from invasive disease sources. In conclusion, half of the atypical pneumococcal clinical isolates were, in fact, S. pseudopneumoniae and one-fourth were other streptococci. We identified S. pseudopneumoniae and non-typeable pneumococci as cause of disease in Spain including invasive disease.

  18. A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

    Directory of Open Access Journals (Sweden)

    Nina van Beek

    Full Text Available The autosomal dominant Hailey Hailey disease (HHD is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1 in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. By NGS of one HHD-patient and in silico SNP calling and SNP filtering we identified a SNP in the expected ATP2C1 gene and SNPs in further ATPase genes. Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5 were identified. The SNPs rs138177421 in the ATP9B gene and rs2280268 in the ATP13A5 gene were detected in all 3 affected, but not in 2 non affected family members. The SNPs in the ATP2B3 and ATP11A gene as well as further SNPs in the ATP13A5 gene could not be confirmed in all affected family members. One may speculate that besides the level of functional hSPCA1 protein, levels of other ATPase proteins may influence expressivity of the disease and might also contribute, as in this case, to atypical presentations.

  19. A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

    Science.gov (United States)

    Gupta, Yask; Möller, Steffen; Freitag, Miriam; Lemcke, Susanne; Recke, Andreas; Zillikens, Detlef; Schmidt, Enno; Ibrahim, Saleh

    2015-01-01

    The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS) based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. By NGS of one HHD-patient and in silico SNP calling and SNP filtering we identified a SNP in the expected ATP2C1 gene and SNPs in further ATPase genes. Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5) were identified. The SNPs rs138177421 in the ATP9B gene and rs2280268 in the ATP13A5 gene were detected in all 3 affected, but not in 2 non affected family members. The SNPs in the ATP2B3 and ATP11A gene as well as further SNPs in the ATP13A5 gene could not be confirmed in all affected family members. One may speculate that besides the level of functional hSPCA1 protein, levels of other ATPase proteins may influence expressivity of the disease and might also contribute, as in this case, to atypical presentations. PMID:25837627

  20. A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

    Science.gov (United States)

    van Beek, Nina; Patsatsi, Aikaterini; Gupta, Yask; Möller, Steffen; Freitag, Miriam; Lemcke, Susanne; Recke, Andreas; Zillikens, Detlef; Schmidt, Enno; Ibrahim, Saleh

    2015-01-01

    The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS) based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. By NGS of one HHD-patient and in silico SNP calling and SNP filtering we identified a SNP in the expected ATP2C1 gene and SNPs in further ATPase genes. Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5) were identified. The SNPs rs138177421 in the ATP9B gene and rs2280268 in the ATP13A5 gene were detected in all 3 affected, but not in 2 non affected family members. The SNPs in the ATP2B3 and ATP11A gene as well as further SNPs in the ATP13A5 gene could not be confirmed in all affected family members. One may speculate that besides the level of functional hSPCA1 protein, levels of other ATPase proteins may influence expressivity of the disease and might also contribute, as in this case, to atypical presentations. PMID:25837627

  1. Late endothelial function in children with coronary aneurysm due to Kawasaki disease%川崎病冠脉瘤患儿远期血管内皮功能的研究

    Institute of Scientific and Technical Information of China (English)

    段超; 杜忠东; 王玉; 贾立群

    2011-01-01

    Objective To evaluate the late endothelial function in children with coronary aneurysm due to Kawasaki disease (KD). Methods Thirty-one children with coronary aneurysms duc to KD who had the disease course for more than 1 year and twenty-one age-matched healthy children were enrolled. Brachial artery endothelium-dependent and -independent flow-mediated dilation (FMD), carotid arterial stiffness index (SI) and intima-media thickness (IMT) were measured by high-frequency ultrasound. Results There were 9 cases of medium and 22 cases of giant coronary aneurysms in the KD group. Twelve KD patients had evidence of myocardial ischemia. Compared to the normal controls, the endotheliumdependent FMD decreased (P < 0. 05), the carotid arterial SI increased (P < 0.05), and the carotid arterial intima-media thickness increased significantly (P <0.05) in children with coronary aneurysms due to KD. The endothelium-dependent FMD decreased more significantly in 12 KD patients with myocardial ischemia than in those without any evidence of myocardial ischemia (P < O. 05 ). Conclusions Late endothelial dysfunction exists in children with coronary aneurysms due to KD, especially in those with myocardial ischemia.%目的 评估川崎病(KD)冠脉瘤患儿远期血管内皮功能.方法 选择病程大于1年的合并中型以上冠脉瘤的川崎病患儿31例为研究对象,采用高分辨率超声仪进行肱动脉内皮依赖性和非依赖性舒张功能(FMD)、颈动脉僵硬度指数(SI)和颈动脉内中膜厚度(IMT)的检测.选择年龄相近的正常儿童21例作为对照.结果 31例KD冠脉瘤患儿中,中型冠脉瘤9例,冠脉巨大瘤22例,其中12例有心肌缺血.与对照组比较,KD冠脉瘤组患儿肱动脉血管内皮依赖性FMD减低(P<0.05),颈动脉SI增加(P<0.05),颈动脉IMT增厚(P<0.05).与无心肌缺血患儿相比,有心肌缺血患儿血管内皮依赖性FMD显著降低(P<0.05).结论 KD冠脉瘤患儿远期存在血管内皮功能障碍,

  2. BLK基因多态性与川崎病及其临床特点的相关性%Association between gene polymorphism ofBLK gene and clinical characteristic in Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    董启忠; 张超; 李月茹

    2015-01-01

    ObjectiveTo investigate the association of two single nucleotide polymorphisms (SNPs) (rs2736340 and rs2618476) inBLK gene with Kawasaki disease (KD) and coronary artery lesion in Chinese Han children.MethodsIn the case-control study, 179 children with KD were selected and 182 healthy check-up children during the same period were selected as normal controls. The genotypes of two SNPs inBLK gene were detected using PCR-RFLP and the data were analyzed. ResultsThere was no difference in distribution of three genotypes (TT, CT, and CC) of SNP rs2736340 between KD group and control group (P=0.093). However, T allele frequency in KD group was signiifcantly higher than that in control group (P=0.021). The distribution of three genotypes (CC, CT, and TT) of SNP rs2618476 between KD group and control group was signiifcantly different (P=0.021). C allele frequency in KD group was signiifcantly higher than that in control group (P=0.006). The two SNPs inBLK gene were not associated with rash, hand-foot edema and coronary artery lesion (CAL), but SNP (rs2618476) was asso-ciated with oral mucosa lesions (P=0.018).ConclusionsThe SNP (rs2736340) inBLK gene was not associated with KD, but the T-allele was associated with KD. The SNP (rs2618476) was associated with KD in Han Chinese, and was also associated with oral mucosa lesions in KD patients.%目的:探讨汉族人群中BLK基因2个SNP位点rs2736340和rs2618476的多态性与川崎病(KD)以及动脉损伤的相关性。方法采取病例对照研究方法,分别选取179例KD患儿和同期182例体检正常儿童作为研究对象。利用PCR-RFLP的方法测定BLK基因两个SNP位点多态性分布,并进行统计分析。结果 SNP位点(rs2736340)3种基因型(TT、CT和CC)在KD组与对照组之间分布的差异无统计学意义(P=0.093);但KD患儿T等位基因频率高于对照组,差异有统计意义(P=0.021)。SNP位点(rs2618476)3种基因型(CC、CT、TT)分布,在KD患儿与对照组之间

  3. Critical Overview of the Risk Scoring Systems to Predict Non-Responsiveness to Intravenous Immunoglobulin in Kawasaki Syndrome

    Directory of Open Access Journals (Sweden)

    Donato Rigante

    2016-02-01

    Full Text Available Kawasaki syndrome (KS is the most relevant cause of heart disease in children living in developed countries. Intravenous immunoglobulin (IVIG has a preventive function in the formation of coronary artery abnormalities and a poor strictly-curative action in established coronary damage. More than two decades ago, the Harada score was set to assess which children with KS should be subject to administration of IVIG, evaluating retrospectively a large cohort of patients with regard to age, sex and laboratory data. Nowadays, high dose IVIG is administered to all children with a confirmed diagnosis of KS, but a tool for predicting non-responsiveness to the initial infusion of IVIG has not been found. The prediction of IVIG resistance is a crucial issue, as recognising these high-risk patients should consent the administration of an intensified initial treatment in combination with IVIG in order to prevent coronary injuries. Few reports have focused on factors, referring to both clinical parameters and laboratory data at the onset of KS, in order to predict which patients might be IVIG non-responsive. We have analysed three different risk scores which were formulated to predict IVIG resistance in Japanese children with typical KS, but their application in non-Japanese patients or in those with incomplete and atypical patterns of the disease has been studied in a fragmentary way. Overall, our analysis showed that early and definite ascertainment of likely IVIG non-responders who require additional therapies reducing the development of coronary artery involvement in children with KS is still a challenge.

  4. Critical Overview of the Risk Scoring Systems to Predict Non-Responsiveness to Intravenous Immunoglobulin in Kawasaki Syndrome.

    Science.gov (United States)

    Rigante, Donato; Andreozzi, Laura; Fastiggi, Michele; Bracci, Benedetta; Natale, Marco Francesco; Esposito, Susanna

    2016-01-01

    Kawasaki syndrome (KS) is the most relevant cause of heart disease in children living in developed countries. Intravenous immunoglobulin (IVIG) has a preventive function in the formation of coronary artery abnormalities and a poor strictly-curative action in established coronary damage. More than two decades ago, the Harada score was set to assess which children with KS should be subject to administration of IVIG, evaluating retrospectively a large cohort of patients with regard to age, sex and laboratory data. Nowadays, high dose IVIG is administered to all children with a confirmed diagnosis of KS, but a tool for predicting non-responsiveness to the initial infusion of IVIG has not been found. The prediction of IVIG resistance is a crucial issue, as recognising these high-risk patients should consent the administration of an intensified initial treatment in combination with IVIG in order to prevent coronary injuries. Few reports have focused on factors, referring to both clinical parameters and laboratory data at the onset of KS, in order to predict which patients might be IVIG non-responsive. We have analysed three different risk scores which were formulated to predict IVIG resistance in Japanese children with typical KS, but their application in non-Japanese patients or in those with incomplete and atypical patterns of the disease has been studied in a fragmentary way. Overall, our analysis showed that early and definite ascertainment of likely IVIG non-responders who require additional therapies reducing the development of coronary artery involvement in children with KS is still a challenge. PMID:26927060

  5. Chronic wasting disease and atypical forms of bovine spongiform encephalopathy and scrapie are not transmissible to mice expressing wild-type levels of human prion protein.

    Science.gov (United States)

    Wilson, Rona; Plinston, Chris; Hunter, Nora; Casalone, Cristina; Corona, Cristiano; Tagliavini, Fabrizio; Suardi, Silvia; Ruggerone, Margherita; Moda, Fabio; Graziano, Silvia; Sbriccoli, Marco; Cardone, Franco; Pocchiari, Maurizio; Ingrosso, Loredana; Baron, Thierry; Richt, Juergen; Andreoletti, Olivier; Simmons, Marion; Lockey, Richard; Manson, Jean C; Barron, Rona M

    2012-07-01

    The association between bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) has demonstrated that cattle transmissible spongiform encephalopathies (TSEs) can pose a risk to human health and raises the possibility that other ruminant TSEs may be transmissible to humans. In recent years, several novel TSEs in sheep, cattle and deer have been described and the risk posed to humans by these agents is currently unknown. In this study, we inoculated two forms of atypical BSE (BASE and H-type BSE), a chronic wasting disease (CWD) isolate and seven isolates of atypical scrapie into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP). Upon challenge with these ruminant TSEs, gene-targeted Tg mice expressing human PrP did not show any signs of disease pathology. These data strongly suggest the presence of a substantial transmission barrier between these recently identified ruminant TSEs and humans. PMID:22495232

  6. Atypical diagnosis diagnosis by endoscopic capsule: Whipple´s disease.

    Science.gov (United States)

    Martínez Sánchez, Alba; Sánchez Ceballos, Francisco L; Fernández Díez, Servando; Suárez Solís, María Luisa; Asteinza Daganzo, Matilde; Baki, Walid; Esteban, José Miguel; Rey Díaz-Rubio, Enrique

    2016-03-01

    Whipple´s disease is a chronic systemic infection produced by the actinomycete Tropheryma whipplei. Endoscopic tests are key in the diagnosis as they allow biopsy and histopathological examination for definitive diagnosis of this entity. We present a case of Whipple´s disease where capsule endoscopy, uncommon for the diagnosis of this condition, was essential for it and its performance before and after antibiotic treatment allows to describe the macroscopic evolution of the findings in the small bowel. This case illustrates the utility of capsule endoscopy to allow complete examination of the small bowel disease in which up to 30% of patients may present with normal endoscopy. PMID:26182245

  7. Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease

    OpenAIRE

    Benti, R.; Ciammola, A.; Mencacci, N.; Poletti, B.; Sassone, J.; Silani, V.

    2011-01-01

    Huntington's disease (HD) is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT) imaging of the dopamine transporter showed nigrostriatal pathw...

  8. “Sickle Cell Disease in the Emergency Department: Atypical Complications and Management”

    OpenAIRE

    Brandow, Amanda M.; Liem, Robert

    2011-01-01

    Sickle cell disease is the most common inherited blood disorder in the United States. This disorder of hemoglobin structure leads to a chronic hemolytic anemia and complex chronic disease manifested by sudden, severe, and life-threatening complications. These acute complications can occur in any organ system beginning in early childhood and lasting throughout life. The intermittent nature and acuity of these complications lend the emergency department to be an important site of care. The hall...

  9. Atypical Clinical and Diagnostic Features in Ménétrier's Disease in a Child

    Directory of Open Access Journals (Sweden)

    Michael Chung

    2011-01-01

    Full Text Available Ménétrier's disease is one of the rarest protein-losing gastropathies in childhood. It is characterized clinically by non-specific gastrointestinal symptoms and edema, biochemically by hypoalbuminemia, and pathologically by enlarged gastric folds. In adults, this disease can be devastating with significant morbidity and mortality. In childhood, it is a self-limiting, transient and benign illness. Its treatment is largely supportive with total parenteral nutrition (TPN while oral intake is encouraged. Acute onset of vomiting in healthy school age children can be initially explained by acute viral gastroenteritis. However, persistent vomiting associated with hematemesis and severe abdominal pain should warrant further work-up. This case report illustrates a self-limiting and rare cause of protein-losing enteropathy called Ménétrier's disease that presented with several variant clinical features not typically described in association with this entity.

  10. Atypical Parkinsonism Revealing a Late Onset, Rigid and Akinetic Form of Huntington's Disease

    Directory of Open Access Journals (Sweden)

    A. Ciammola

    2011-01-01

    Full Text Available Huntington's disease (HD is a rare hereditary neurodegenerative disorder characterized in over 90 percent of cases by chorea as the presenting motor symptom. We report a 54-year-old male who presented with Parkinsonism as the initial symptom of the disease. Genetic analysis revealed expansion of 40 CAG repeats, and brain MRI showed both severe caudate nuclei and cortical atrophy. Single-photon emission computed tomography (SPECT imaging of the dopamine transporter showed nigrostriatal pathway degeneration. Here, we also describe his 2 years of clinical followup after ensuing dopaminergic stimulation.

  11. Acute necrotizing encephalopathy of childhood: typical findings in an atypical disease

    Energy Technology Data Exchange (ETDEWEB)

    Skelton, Brandon W.; Phillips, C.D. [University of Virginia Health System, Department of Neuroradiology, Charlottesville, VA (United States); Hollingshead, Michael C.; Castillo, Mauricio [University of North Carolina School of Medicine, Neuroradiology Section, Chapel Hill, NC (United States); Sledd, Andrew T. [University of Virginia Health System, Department of Pediatrics, Charlottesville, VA (United States)

    2008-07-15

    Acute necrotizing encephalopathy of childhood (ANEC) is a disease entity seen nearly exclusively in East Asian children that is characterized by multifocal, symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. We present a child who developed dramatic neurologic symptoms following a viral prodrome. Serial MRI examinations demonstrated characteristic lesions of ANEC, while laboratory analyses revealed evidence of acute infection with human herpesvirus-6 (HHV-6). We highlight the MRI findings in both the acute and convalescent phases of ANEC, discuss the implications of neuroimaging on the child's clinical course, and emphasize the integral role of the radiologist in correctly diagnosing this rare disease. (orig.)

  12. Diffuse Caroli’s disease with atypical presentation: a case report

    OpenAIRE

    Acioli, Maíra Lima; Costa, Lawrence Raizama Gonçalves; de Miranda Henriques, Mônica Souza

    2014-01-01

    This paper describes a case of Caroli’s disease in a female patient aged 32, who complained of nonspecific abdominal pain without cholesthasis or cholangitis. Liver resonance shows segment saccular dilations closely connected to intrahepatic biliary ducts, that differ from the Caroli’s syndrome, which is more common and consists of multiple intrahepatic cystic dilatations, associated to congenital hepatic fibrosis. This patient has a congenital anomaly with an uncommon oligosymptomatic form o...

  13. Cavitary pulmonary nodules in atypical collagen disease and lupoid drug reaction

    International Nuclear Information System (INIS)

    The case histories of two patients with cavitary pulmonary nodules and the findings at chest radiography are reviewed. The first patient had a connective tissue disease with features common to systematic lupus erythematosus and Wegener's granulomatosis. In the second patient the lung changes developed as part of a drug reaction to carbamezapine and/or phenytoin. The common denominator of the cavitating nodules is probably the presence of granulomas, developing as a sequela of pulmonary vasculitis. (orig.)

  14. Lifting of a sector block for YE-2 at Kawasaki.

    CERN Multimedia

    R. Loveless/U. of Wisconsin

    2000-01-01

    YE-2 is build from machined sector blocks. Trial assembly is carried out horizontally. This picture represents the lifting of a machined sector block destined to the trial assembly of a half disk YE-2 at Kawasaki (KHI) Kobe, Japan.

  15. Finger tapping analysis in patients with Parkinson's disease and atypical parkinsonism.

    Science.gov (United States)

    Djurić-Jovičić, Milica; Petrović, Igor; Ječmenica-Lukić, Milica; Radovanović, Saša; Dragašević-Mišković, Nataša; Belić, Minja; Miler-Jerković, Vera; Popović, Mirjana B; Kostić, Vladimir S

    2016-08-01

    The goal of this study was to investigate repetitive finger tapping patterns in patients with Parkinson's disease (PD), progressive supranuclear palsy-Richardson syndrome (PSP-R), or multiple system atrophy of parkinsonian type (MSA-P). The finger tapping performance was objectively assessed in PD (n=13), PSP-R (n=15), and MSA-P (n=14) patients and matched healthy controls (HC; n=14), using miniature inertial sensors positioned on the thumb and index finger, providing spatio-temporal kinematic parameters. The main finding was the lack or only minimal progressive reduction in amplitude during the finger tapping in PSP-R patients, similar to HC, but significantly different from the sequence effect (progressive decrement) in both PD and MSA-P patients. The mean negative amplitude slope of -0.12°/cycle revealed less progression of amplitude decrement even in comparison to HC (-0.21°/cycle, p=0.032), and particularly from PD (-0.56°/cycle, p=0.001), and MSA-P patients (-1.48°/cycle, p=0.003). No significant differences were found in the average finger separation amplitudes between PD, PSP-R and MSA-P patients (pmsa-pd=0.726, pmsa-psp=0.363, ppsp-pd=0.726). The lack of clinically significant sequence effect during finger tapping differentiated PSP-R from both PD and MSA-P patients, and might be specific for PSP-R. The finger tapping kinematic parameter of amplitude slope may be a neurophysiological marker able to differentiate particular forms of parkinsonism. PMID:27343040

  16. Utility of susceptibility-weighted MRI in differentiating Parkinson's disease and atypical parkinsonism

    International Nuclear Information System (INIS)

    Neuropathological studies report varying patterns of brain mineralization in Parkinson's diseases (PD), progressive supranuclear palsy (PSP), and Parkinson variant of multiple system atrophy (MSA-P). Susceptibility-weighted imaging (SWI) is the ideal magnetic resonance imaging (MRI) technique to detect mineralization of the brain. The purpose of this study was to test if SWI can differentiate PD, PSP, and MSA-P. Eleven patients with PD, 12 with PSP, 12 with MSA-P, and 11 healthy controls underwent SWI of the brain. Hypointensity of putamen, red nucleus, substantia nigra, and dentate nucleus in all groups were measured using an objective grading scale and scored from 0 to 3. In PSP, hypointensity score of red nucleus was higher than that in MSA-P (p = 0.001) and PD (p = 0.001), and a score of ≥2 differentiated the PSP group from the PD and MSA-P groups. Putaminal hypointensity score was higher in PSP when compared to that in PD (p = 0.003), and a score of ≥2 differentiated PSP from PD groups. SWI hypointensity scores of red nucleus and putamen had an excellent intrarater and interrater correlation. Substantia nigra hypointensity score of the PSP group was higher than that of the MSA-P (p = 0.004) and PD (p = 0.006) groups, but the scores had only a moderate intrarater and interrater correlation. SWI shows different patterns of brain mineralization in clinically diagnosed groups of PD, PSP, and MSA-P and may be considered as an additional MR protocol to help differentiate these conditions. (orig.)

  17. Five Cases of Atypical Rickettsial Infections

    OpenAIRE

    Salva, I; Gouveia, C.; De Sousa, R.; Brito, MJ

    2011-01-01

    Background: Rickettsia conorii is the most frequent species of RickettsiaI causing disease in Portugal. In general the disease manifests itself by fever, exanthema, headaches and the presence of an eschar. However atypical forms can be present and physicians should be aware. Aims: Analyse the atypical presentation of rickettsiosis. Material and Methods: Children admitted at the CHLC Hospital from 2000 to 2010 with atypical presentation of rickettsiosis. Clinical diagnosis wa...

  18. The clinical features and follow-up study of 100 cases of Kawasaki disease%儿童川崎病100例临床特征及随访分析

    Institute of Scientific and Technical Information of China (English)

    刘玉玲; 付四毛; 李小琳; 林汉炼; 陈明; 李性希

    2011-01-01

    Objective To explore the clinical features, etiological factors, treatments and prognosis of 100 cases of Kawasaki disease(KD). Methods Totally 100 patients with KD in our department treated from 2000 to 2005 was included in the study. A retrospective study was carried ont to analyze clinical characteristics, treatment and outcomes of these patients. Results Clinical features: age of onset (2.01 ± 1.35) years, the age of follow-up (8.2 t 1.68) years;male to female ratio was 1.7∶ 1. Tipical KD (88), including recurrence KD (2), incomplete KD (12). Cardiova-scular complications existed in 25 patients,including coronary artery complications(22), pericardial effusion(2), myocarditis( 1 ) ,transient coronary artery ectasia (18) and coronary aneurysm formation (4), (small tumors in 1 case, medium-sized tumor in 2 cases and a huge tumor in 1 case). Non-cardiovascular complications cases included hepatitis or impaired liver function (34), gallbladder hydrops (3), paralytic intestinal obstruction ( 1 ), aseptic meningitis (3) , facial palsy (5), pneumonia (53), urethritis (12) and arthritis (6). Treatment and efficacy: 89 patients within 10 days of the course were given IVIG 2 g/kg; 12 patients without response were given a 2nd IVIG; 2 IVIG non-responsive patients were added the use of glucocorticoid; 11 cases diagnosed as subacute were given IVIG 1 ~ 2 g/(kg-d), 3 cases with coronary aneurysm formation (P < 0.05 ).Those without coronary artery lesions withdrawed the treatment at the course of 6 to 8 weeks; 18 patients with coronary artery dilation were tracked from 6 months to 1 year to discontinuation; 3 cases of small and medium-sized coronary aneurysm withdrawed in the course of 1 to 3 years; 1 case of giant coronary aneurysm was given aspirin for 7 years. Follow-up and prognosis: 56 patients were followed up to ≥ 5 years, up to 10 years. Abnormal follow-up echocardiography occurred in 10 cases (17.8% ).Among them, 1 case of giant coronary artery aneurysms

  19. Assessment of Coronary Artery Aneurysms Cased By Kawasaki Diesease Using Transluminal Attenuation Gradient Analysis of CT Angiograms

    OpenAIRE

    Gutierrez, Noelia Grande

    2015-01-01

    Patients with coronary artery aneurysms (CAA) resulting from Kawasaki Disease (KD) are at risk for thrombosis and myocardial infarction. Current guidelines recommend using CAA diameter >8 mm as the criterion for initiating systemic anticoagulation, but there is little outcome data to support this choice. Transluminal Attenuation Gradient (TAG) has been proposed as a non-invasive method for evaluating the functional significance of coronary stenoses using CT Angiography (CTA). However TAG has ...

  20. Atypical amyotrophic lateral sclerosis with dementia mimicking frontal Pick's disease: a report of an autopsy case with a clinical course of 15 years.

    Science.gov (United States)

    Tsuchiya, K; Ikeda, K; Haga, C; Kobayashi, T; Morimatsu, Y; Nakano, I; Matsushita, M

    2001-06-01

    This report concerns an autopsy case of atypical amyotrophic lateral sclerosis (ALS) with dementia mimicking frontal Pick's disease. The patient was a Japanese woman without hereditary burden who was 45 years old at the time of death. She developed abnormal behavior and amnesia at age 30, followed by disinhibition, aspontaneity, urinary incontinence, abulia, and rectal incontinence. Neurological signs compatible with ALS developed about 14 years after the disease onset. No respirator was used throughout the clinical course. Macroscopically, neuropathological examination showed atrophy of the frontotemporal lobes with accentuation in the convexities of the frontal lobes. Histologically, there was neuronal loss in the cerebral cortex, parahippocampal gyrus, amygdala, caudate nucleus, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to marked degeneration of the pyramidal tracts. Ubiquitin-immunoreactive neuronal inclusions were present in the frontotemporal cortical layer II neurons and motor neurons in the brain stem and spinal cord. In the hippocampal dentate granular cells, many ubiquitin-immunoreactive neurites were present without ubiquitin-immunoreactive intraneuronal inclusions. Based on these clinicopathological findings and a review of the literature, we concluded that our case was atypical ALS with dementia of long disease duration. We also note the possibility that motor neuron disease-inclusion dementia with a long clinical course may develop into ALS in the final stage of the illness. PMID:11515792

  1. 川崎病患儿血清抗β2糖蛋白Ⅰ抗体和抗心磷脂抗体的检测及其意义%The levels and relationship of anticardiolipin antibody and anti β2 lycoprotein I antibody in the serum of children with kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    刘桂英; 谭岩; 杜军保

    2005-01-01

    严重的心血管系统损害是川崎病(kawasaki disease,KD)主要的并发症.冠状动脉瘤(coronary arteries aneurysms,CAA)是KD患儿致死的主要原因.不治疗的KD发生冠状动脉并发症的发生率为25%~30%,病死率为1%~2%,其中6%以上死于心肌梗死.自从1990年发现β2糖蛋白Ⅰ(β2-glycoprotein I,β2GPⅠ)是抗心磷脂抗体(anticardiolipid antibody,ACA)与心磷脂体外结合所必需的辅助因子以来,β2GPⅠ引起人们广泛的注意.我们探讨了抗β2GPⅠ抗体和ACA在KD患儿血清中的水平及其临床意义。

  2. 川崎病冠状动脉病变的随访及超声心动图和冠状动脉造影价值的研究%Follow-up of coronary artery lesions caused by Kawasaki disease and the val ue of coronary angiography

    Institute of Scientific and Technical Information of China (English)

    龚方戚; 白石裕比湖; 桃井真里子

    2002-01-01

    Objective To investigate the course of coronary artery lesions caused by Kawasaki disease, and the value of coronary angiography (CAG) and two-dimensional echocardiograp hy (2-D Echo) in the evaluation and follow-up of coronary artery lesions. Methods Eighty seven patients with coronary artery lesions caused by Kawasaki disease fr om 1979 to 1997 were retrospectively analyzed. One hundred and sixty-seven CA Gs were performed in 87 patients during follow-up. CAG was repeated every 1- 3 years in each patient until complete regression was confirmed. 2-D Echo was performed before CAG each time. The longest period of follow-up was 16 years and 6 months. Patients were treated with aspirin or aspirin and warfarin. Results During follow-up, the coronary artery lesions regressed in 48/87 (55%) patients , however, they developed into severe coronary artery lesions in 6/87 (7%) patie nts in whom coronary artery bypass surgery was performed. The coronary artery aneurysm regressed in some patients, while stenotic lesions remained or develope d. The ratio of coronary artery stenotic lesions to aneurysms increased progre ssively. This study showed that Echo diagnosis of coronary artery lesions has "false positives" and "false negatives". Only 76% of coronary aneurysms and 18% of stenotic lesions could be found by 2-D Echo. No stenotic lesion could be found in distal segments of the coronary artery. Conclusions Long term follow up revealed spontaneous regression occurred in 55% of patients and development into severe coronary artery stenosis in 7%. It is necessary to perform long-term follow-up in patients with coronary artery lesions caused b y Kawasaki disease. 2-D Echo can not completely replace CAG during follow-up of coronary artery lesions caused by Kawasaki disease.%目的探讨川崎病后冠状动脉病变及转归,以及二维超声心动图和选择性冠状动脉造影在冠状动脉病变判断和长期随访中的作用.方法 1979-1997年因川崎病在治疗和随

  3. Familial benign pemphigus atypical localization

    OpenAIRE

    Reyes, Maria Veronica; Halac, Sabina; Mainardi, Claudio; Kurpis, Maria; Ruiz Lascano, Alejandro

    2016-01-01

    We present an atypical case of familial benign pemphigus (Hailey-Hailey disease), which presented as crusted, annular plaques limited to the back without intertriginous involvement. We could not find in the literature another patient with plaques located solely on the back without a prior history of classical disease.

  4. The diagnosis and management of pre-invasive breast disease: Pathology of atypical lobular hyperplasia and lobular carcinoma in situ

    International Nuclear Information System (INIS)

    The term lobular neoplasia refers to a spectrum of lesions featuring atypical lobular hyperplasia and lobular carcinoma in situ (LCIS). The histopathological characteristics of these lesions are well documented. What is less well understood is the management implications of a patient diagnosed with LCIS; treatment regimes vary and are somewhat controversial. LCIS is now considered a risk factor and a non-obligate precursor for the subsequent development of invasive cancer

  5. Atypical form of Alzheimer's disease with prominent posterior cortical atrophy: a review of lesion distribution and circuit disconnection in cortical visual pathways

    Science.gov (United States)

    Hof, P. R.; Vogt, B. A.; Bouras, C.; Morrison, J. H.; Bloom, F. E. (Principal Investigator)

    1997-01-01

    In recent years, the existence of visual variants of Alzheimer's disease characterized by atypical clinical presentation at onset has been increasingly recognized. In many of these cases post-mortem neuropathological assessment revealed that correlations could be established between clinical symptoms and the distribution of neurodegenerative lesions. We have analyzed a series of Alzheimer's disease patients presenting with prominent visual symptomatology as a cardinal sign of the disease. In these cases, a shift in the distribution of pathological lesions was observed such that the primary visual areas and certain visual association areas within the occipito-parieto-temporal junction and posterior cingulate cortex had very high densities of lesions, whereas the prefrontal cortex had fewer lesions than usually observed in Alzheimer's disease. Previous quantitative analyses have demonstrated that in Alzheimer's disease, primary sensory and motor cortical areas are less damaged than the multimodal association areas of the frontal and temporal lobes, as indicated by the laminar and regional distribution patterns of neurofibrillary tangles and senile plaques. The distribution of pathological lesions in the cerebral cortex of Alzheimer's disease cases with visual symptomatology revealed that specific visual association pathways were disrupted, whereas these particular connections are likely to be affected to a less severe degree in the more common form of Alzheimer's disease. These data suggest that in some cases with visual variants of Alzheimer's disease, the neurological symptomatology may be related to the loss of certain components of the cortical visual pathways, as reflected by the particular distribution of the neuropathological markers of the disease.

  6. Disease Isolates of Streptococcus pseudopneumoniae and Non-Typeable S. pneumoniae Presumptively Identified as Atypical S. pneumoniae in Spain

    OpenAIRE

    Dora Rolo; Simões, Alexandra S.; Arnau Domenech; Asunción Fenoll; Josefina Liñares; Hermínia de Lencastre; Carmen Ardanuy; Raquel Sá-Leão

    2013-01-01

    We aimed to obtain insights on the nature of a collection of isolates presumptively identified as atypical Streptococcus pneumoniae recovered from invasive and non-invasive infections in Spain. One-hundred and thirty-two isolates were characterized by: optochin susceptibility in ambient and CO(2)-enriched atmosphere; bile solubility; PCR-based assays targeting pneumococcal genes lytA, ply, pspA, cpsA, Spn9802, aliB-like ORF2, and a specific 16S rRNA region; multilocus sequence analysis; and a...

  7. Consideraciones orales del síndrome de Kawasaki: Descripción de un caso clínico Oral considerations of Kawasaki syndrome: A case report

    Directory of Open Access Journals (Sweden)

    M.C. Figueiredo

    2010-08-01

    Full Text Available El objetivo del presente estudio es presentar un caso clínico y revisar la literatura existente sobre el Síndrome de Kawasaki (SK tan frecuente en pacientes con necesidades especiales. Las características clínicas de esta patología se observan ya en niños muy jóvenes, en la gran mayoría de los casos menores de 5 años de edad. Esta es una patología que puede llevar al óbito, pues revela un compromiso cardíaco importante. Hay señales y síntomas en la cavidad oral en la fase aguda de la enfermedad, como la lengua de "frambuesa", eritema con fisura labial y eritema en la mucosa oral, siendo importante que el dentista tenga el conocimiento de esta patología y encamine el paciente para tratamiento médico con urgencia. Se observó en este caso una característica peculiar, que es la retención prolongada de la dentición temporaria. Una vez diagnosticado y tratado, el conocimiento del Síndrome de Kawasaki permite al dentista planear con seguridad un tratamiento dentario a largo plazo. Con eso puede evitarse que los dientes permanentes erupcionen ectópicamente, así como también mantener una profilaxis bucal de rutina, preservando la salud oral de los pacientes portadores de este síndrome.The aim of this study is to review what literature presents about Kawasaki Disease (KD, common in patients with special needs. Clinical evidence of this pathology may be observed in young children, who are usually less than five years old. This pathology may lead patients to death since it involves serious heart conditions. There are signs and symptoms in the oral cavity during the acute phase, for example "strawberry" tongue, red lesions with lips fissure and red lesions of oral mucous. Therefore it is important for the dentist to know about this pathology in order to send the patient to urgent medical treatment. A peculiar characteristic was observed in this case, long term retention of temporary dentition. Once the disease has been diagnosed and

  8. Absence of atypical haplotype and presence of Senegal haplotype sickle cell disease in African-descent population in the northern Brazil

    Directory of Open Access Journals (Sweden)

    Rafael E. Nascimento

    2015-04-01

    Full Text Available Introduction: Sickle cell anemia (SCA is the most severe form of sickle cell disease; it presents variants that are called haplotypes βS. There are five major haplotypes βS gene: Arab-Indian/Saudi, Senegal, Benin, Bantu, and Camaroon. Objective: Characterize the presence of haplotypes in patients with SCA in Amapá. Methods: 46 sample were studied, all samples were amplified and analyzed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP. Results: Bantu (61.2%, followed by Benin (26.5% and Senegal (12.2%. Conclusion: We identified three haplotypes characteristic of African ethnicity, with the presence of Senegal. In our study we found the presence of atypical haplotype, suggesting concentration and semi-isolation of the founding groups with little mixing.

  9. α-Synuclein and anti-α-synuclein antibodies in Parkinson's disease, atypical Parkinson syndromes, REM sleep behavior disorder, and healthy controls.

    Directory of Open Access Journals (Sweden)

    Lynnae M Smith

    Full Text Available α-synuclein is thought to play a key role in Parkinson's disease (PD because it is the major protein in Lewy bodies, and because its gene mutations, duplication, and triplication are associated with early-onset PD. There are conflicting reports as to whether serum and plasma concentrations of α-synuclein and anti-α-synuclein antibodies differ between PD and control subjects. The objectives of this study were to compare the levels of α-synuclein and its antibodies between individuals with typical PD (n=14, atypical Parkinson syndromes (n=11, idiopathic rapid eye movement sleep behavior disorder (n=10, and healthy controls (n=9, to assess the strength of association between these serum proteins, and to determine group sizes needed for a high probability (80% power of detecting statistical significance for 25% or 50% differences between typical PD and control subjects for these measurements. Analysis of log-transformed data found no statistically significant differences between groups for either α-synuclein or its antibodies. The concentrations of these proteins were weakly correlated (Spearman rho=0.16. In subjects with typical PD and atypical Parkinson syndromes, anti-α-synuclein antibody levels above 1.5 µg/ml were detected only in subjects with no more than four years of clinical disease. Power analysis indicated that 236 and 73 samples per group would be required for an 80% probability that 25% and 50% differences, respectively, in mean α-synuclein levels between typical PD and control subjects would be statistically significant; for anti-α-synuclein antibodies, 283 and 87 samples per group would be required. Our findings are consistent with those previous studies which suggested that serum concentrations of α-synuclein and its antibodies are not significantly altered in PD.

  10. Transpupillary thermotherapy for atypical central serous chorioretinopathy

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    Kawamura R

    2012-01-01

    Full Text Available Ryosuke Kawamura1,2, Hidenao Ideta1, Hideyuki Hori1, Kenya Yuki2, Tsuyoshi Uno1, Tatsurou Tanabe1, Kazuo Tsubota2, Tsutomu Kawasaki11Ideta Eye Hospital, Kumamoto, Japan; 2Keio University, School of Medicine, Department of Ophthalmology, Tokyo, JapanBackground: Central serous chorioretinopathy (CSC has been traditionally treated with laser photocoagulation. We thought that transpupillary thermotherapy (TTT utilizing a lower temperature than that of conventional laser photocoagulation might minimize permanent retinal and choroidal damage. Studies suggest that undesirable effects on vision due to TTT are minimal even if it is applied to foveal and/or parafoveal lesions when TTT requires a larger irradiation spot. The aim of this study was to evaluate the efficacy of TTT in the management of atypical CSC.Methods: We defined atypical CSC as bullous retinal detachment with diffuse or several leakages, severe leakage with fibrin formation under serous retinal detachment, or leakage within a pigment epithelium detachment. Eight consecutive patients with atypical CSC underwent visual acuity testing, ophthalmic examination, color photography, fluorescein angiography, and optical coherence tomography to evaluate the results of transpupillary thermotherapy. Retreatment of atypical CSC was based on ophthalmic examination, optical coherence tomography, and fluorescein angiography. TTT was performed on the leaking spots shown in fluorescein angiography, with a power of 50–250 mW, spot size of 500–1200 µm, and exposure time of 13–60 seconds to minimize retinal damage.Results: In five of eight affected eyes, serous detachments completely resolved within 1 month after the initial TTT. One eye had persistent subretinal fluid and required a second TTT treatment. Two eyes showed no resolution of CSC and were treated by conventional photocoagulation. Initial best-corrected visual acuity (BCVA ranged from 20/600 to 20/20 (mean, 20/40; median, 20/30. Final BCVA

  11. Cold agglutinin disease associated with mycoplasma infection in an individual with type 2 diabetes: An atypical case

    OpenAIRE

    Chandrama Shrestha; Liu Min; Zhaohui Mo

    2012-01-01

    Cold Agglutinin Disease is a hemolytic anemia associated with cold reactive autoantibodies. Although the acute form of cold agglutinin disease can be attributed to autoimmune or infectious diseases and lymphoproliferative diseases, it has, to the best of our knowledge, so far,never been reported as secondary to mycoplasma pneumonia in a type 2 diabetic individual. In this paper, we report a case of cold agglutinin disease following mycoplasma pneumonia in a 47-year-old female patient with typ...

  12. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

    OpenAIRE

    Addis, Maria; Meloni, Cristiana; Tosetto, Enrica; Ceol, Monica; Cristofaro, Rosalba; Melis, Maria Antonietta; Vercelloni, Paolo; Del Prete, Dorella; Marra, Giuseppina; Anglani, Franca

    2012-01-01

    Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations. The disease's genetic heterogeneity is accompanied by interfamilial and intrafamilial phenotypic heterogeneity. We report on a case of Dent's disease with a ve...

  13. A preconditioner for the Ohta--Kawasaki equation

    OpenAIRE

    Farrell, Patrick E.; Pearson, John W

    2016-01-01

    We propose a new preconditioner for the Ohta--Kawasaki equation, a nonlocal Cahn--Hilliard equation that describes the evolution of diblock copolymer melts. We devise a computable approximation to the inverse of the Schur complement of the coupled second-order formulation via a matching strategy. The preconditioner achieves mesh independence: as the mesh is refined, the number of Krylov iterations required for its solution remains approximately constant. In addition, the preconditioner is rob...

  14. Extra Nodal Rosai-Dorfman Disease (Sinus Histiocytosis with Massive Lymphadenopathy) Presenting as Asymmetric Bilateral Optic Atrophy : An Atypical Ocular Presentation.

    Science.gov (United States)

    Shukla, Eesha; Nicholson, Anjali; Agrawal, Anamika; Rathod, Darshana

    2016-09-01

    Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy, SHML) is a rare, non-hereditary, benign histiocytic proliferative disorder, presenting as painless bilateral cervical lymphadenopathy, with systemic symptoms. Extra nodal manifestations have been reported in 28-43 % cases with rare ocular involvement. We report a case of a 57 year old female presenting with gradual progressive decrease of vision OU since 8 months associated with epistaxis. Fundus examination revealed established optic atrophy in right eye with features of chronic papilloedema in left eye suggestive of compressive lesion. CT of brain, paranasal sinuses confirmed the presence of homogenously enhancing mass in left ethmoid sinus, left sphenoid sinus extending into suprasellar region. The biopsy of this mass revealed extra nodal SHML with tissue sections being S100 and CD68 positive with emperipolesis noted. Here we describe this atypical ocular presentation of extra nodal SHML to highlight that this rare disease can manifest as an aggressive sight threatening entity, even in older age group. PMID:27091209

  15. Mosquito vectors developing in atypical anthropogenic habitats: Global overview of recent observations, mechanisms and impact on disease transmission.

    Science.gov (United States)

    Ramasamy, Ranjan; Surendran, Sinnathamby N

    2016-01-01

    The major mosquito vectors of human diseases have co-evolved with humans over a long period of time. However, the rapid growth in human population and the associated expansion in agricultural activity and greater urbanisation have created ecological changes that have had a marked impact on biology of mosquito vectors. Adaptation of the vectors of malaria and important arbovial diseases over a much shorter time scale to the new types of preimaginal habitats recently created by human population growth and activity is highlighted here in the context of its potential for increasing disease transmission rates. Possible measures that can reduce the effects on the transmission of mosquito-borne diseases are also outlined. PMID:27353577

  16. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.

    Science.gov (United States)

    Addis, Maria; Meloni, Cristiana; Tosetto, Enrica; Ceol, Monica; Cristofaro, Rosalba; Melis, Maria Antonietta; Vercelloni, Paolo; Del Prete, Dorella; Marra, Giuseppina; Anglani, Franca

    2013-06-01

    Dent's disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene. Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been shown to lead to a Dent-like phenotype called Dent disease 2. However, about 20% of patients with Dent's disease carry no CLCN5/OCRL mutations. The disease's genetic heterogeneity is accompanied by interfamilial and intrafamilial phenotypic heterogeneity. We report on a case of Dent's disease with a very unusual phenotype (dysmorphic features, ocular abnormalities, growth delay, rickets, mild mental retardation) in which a digenic inheritance was discovered. Two different, novel disease-causing mutations were detected, both inherited from the patient's healthy mother, that is a truncating mutation in the CLCN5 gene (A249fs*20) and a donor splice-site alteration in the OCRL gene (c.388+3A>G). The mRNA analysis of the patient's leukocytes revealed an aberrantly spliced OCRL mRNA caused by in-frame exon 6 skipping, leading to a shorter protein, but keeping intact the central inositol 5-phosphatase domain and the C-terminal side of the ASH-RhoGAP domain. Only wild-type mRNA was observed in the mother's leukocytes due to a completely skewed X inactivation. Our results are the first to reveal the effect of an epistatic second modifier in Dent's disease too, which can modulate its expressivity. We surmise that the severe Dent disease 2 phenotype of our patient might be due to an addictive interaction of the mutations at two different genes. PMID:23047739

  17. Gendered Uncertainty and Variation in Physicians' Decisions for Coronary Heart Disease: The Double-Edged Sword of "Atypical Symptoms"

    Science.gov (United States)

    Welch, Lisa C.; Lutfey, Karen E.; Gerstenberger, Eric; Grace, Matthew

    2012-01-01

    Nonmedical factors and diagnostic certainty contribute to variation in clinical decision making, but the process by which this occurs remains unclear. We examine how physicians' interpretations of patient sex-gender affect diagnostic certainty and, in turn, decision making for coronary heart disease. Data are from a factorial experiment of 256…

  18. Disease Recurrence After Early Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome With Complement C3 I1157T Mutation.

    Science.gov (United States)

    Toyoda, Hidemi; Wada, Hideo; Miyata, Toshiyuki; Amano, Keishiro; Kihira, Kentaro; Iwamoto, Shotaro; Hirayama, Masahiro; Komada, Yoshihiro

    2016-04-01

    Eculizumab, terminal complement inhibitor, has become the frontline treatment for atypical hemolytic uremic syndrome (aHUS). However, the optimal treatment schedule has not yet been established. We describe here an aHUS patient with a mutation of C3 I1157T who achieved remission with eculizumab and suffered a recurrence after eculizumab discontinuation, a clinical situation that has not been previously described in patients with C3 mutation. A 9-year-old male experienced an onset of aHUS after viral gastroenteritis and was treated with hemodialysis. At 13 years of age he developed bacterial enterocolitis due to Campylobacter jejuni and experienced a recurrence of aHUS. Eculizumab was initiated on day 4 after disease onset resulting in recovering laboratory parameters. The patient received eculizumab for 5 months before its discontinuation. Second relapse induced by bacterial pharyngitis was confirmed 4 months after eculizumab discontinuation and prompt eculizumab reinitiation resulted in rapid remission. The patients carrying mutations in CFH or C3 have a high frequency of relapse and worse prognosis. More than 50% of aHUS relapses occurred during the first year after the onset. Therefore, long-term treatment with eculizumab is appropriate in patients with aHUS who have experienced a relapse or have mutations associated with poor prognosis. PMID:26840081

  19. Atypical manifestations of early syphilis

    Directory of Open Access Journals (Sweden)

    Koranne R

    1990-01-01

    Full Text Available A study of 36 untreated patients with early syphilis revealed atypical variations namely; long incubation period of 101 days in I patient, more than 3 chancres in 1, undermined margin of the chancre along with tenderness in 1 and moderate to severe tenderness of the ulcers in 2 cases. In 3 patients there was no indurations of the ulcers. Three patients with primary syphilis had unilateral lymphadenitis, and in I case the lymph nodes were not only tender but showed tendency towardsmatingawell. Insecondarysyphilis, 11 out of 16 patients having condylomata lata had no other muco-cutaneous lesions. Concomitant presence of other venereal disease to account for the atypical manifestations was discounted- by appropriate laboratory tests, response to therapeutic agents and follow up.

  20. PAPP2C Interacts with the Atypical Disease Resistance Protein RPW8.2 and Negatively Regulates Salicylic Acid-Dependent Defense Responses in Arabidopsis

    Institute of Scientific and Technical Information of China (English)

    Wen-Ming Wang; Xian-Feng Ma; Yi Zhang; Ming-Cheng Luo; Guo-Liang Wang; Maria Bellizzi; Xing-Yao Xiong; Shun-Yuan Xiao

    2012-01-01

    Many fungal and oomycete pathogens differentiate a feeding structure named the haustorium to extract nutrition from the plant epidermal cell.The atypical resistance (R) protein RPW8.2 activates salicylic acid (SA)-dependent,haustorium-targeted defenses against Golovinomyces spp.,the causal agents of powdery mildew diseases on multiple plant species.How RPW8.2 activates defense remains uncharacterized.Here,we report that RPW8.2 interacts with the phytochrome-associated protein phosphatase type 2C (PAPP2C) in yeast and in planta as evidenced by coimmunoprecipitation and bimolecular fluorescence complementation assays.Down-regulation of PAPP2C by RNA interference (RNAi) in Col-0 plants lacking RPW8.2 leads to leaf spontaneous cell death and enhanced disease resistance to powdery mildew via the SA-dependent signaling pathway.Moreover,down-regulation of PAPP2C by RNAi in the RPW8.2 background results in strong HR-like cell death,which correlates with elevated RPW8.2 expression.We further demonstrate that hemagglutinin (HA)-tagged PAPP2C prepared from tobacco leaf cells transiently transformed with HA-PAPP2C possesses phosphatase activity.In addition,silencing a rice gene (Os04g0452000) homologous to PAPP2C also results in spontaneous cell death in rice.Combined,our results suggest that RPW8.2 is functionally connected with PAPP2C and that PAPP2C negatively regulates SA-dependent basal defense against powdery mildew in Arabidopsis.

  1. Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor

    OpenAIRE

    Yang, Xiang; Liu, Xue-Song; Fang, Yuan; Zhang, Xiu-Hui; Zhang, Yue-Kang

    2014-01-01

    The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operatio...

  2. Ohta-Jasnow-Kawasaki Approximation for Nonconserved Coarsening under Shear

    OpenAIRE

    Cavagna, Andrea; Bray, Alan J.; Travasso, Rui D. M.

    2000-01-01

    We analytically study coarsening dynamics in a system with nonconserved scalar order parameter, when a uniform time-independent shear flow is present. We use an anisotropic version of the Ohta-Jasnow-Kawasaki approximation to calculate the growth exponents in two and three dimensions: for d=3 the exponents we find are the same as expected on the basis of simple scaling arguments, that is 3/2 in the flow direction and 1/2 in all the other directions, while for d=2 we find an unusual behavior, ...

  3. Histochemical and biochemical observations of the spleen in atypical Niemann-Pick disease and in idiopathic thrombocytopenic purpura.

    Science.gov (United States)

    Safanda, J; Fakan, F

    1981-01-01

    In a case of adolescent Niemann-Pick disease (NP) and in a case of idiopathic thrombocytopenic purpura (ITP), the histologic picture of the spleen showed appreciable similarity in localization of sparing cells and in a number of histochemical tests. The sphingomyelin, which was the main organ phospholipid in both conditions, contained substantially elevated content of C24 fatty acids. Detailed analysis of spleen lipids showed great relative increase of lysobisphosphatidic acid and of cholesterol which was in NP mainly in free form but in ITP surprisingly mainly esterified, mostly to oleic and palmitic acid. Possible molecular mechanism of sphingomyelin storage was enzymologically followed in model conditions using separated lipid fractions from NP's spleen. The activity of sphingomyelinase (Cl. perfringens exotoxin) was in comparison to phospholipase C relatively specifically inhibited by lysobisphosphatidic acid. PMID:6168156

  4. Nigrosome-1 on Susceptibility Weighted Imaging to Differentiate Parkinson’s Disease From Atypical Parkinsonism: An In Vivo and Ex Vivo Pilot Study

    Science.gov (United States)

    Meijer, Frederick J.A.; Steens, Stefan C.; van Rumund, Anouke; van Cappellen van Walsum, Anne-Marie; Küsters, Benno; Esselink, Rianne A.J.; Verbeek, Marcel M.; Bloem, Bastiaan R.; Goraj, Bożena

    2016-01-01

    Summary Background Previous case-control studies have suggested that the absence of a swallow-tail appearance in the substantia nigra on high-resolution SWI, representing nigrosome-1, has high accuracy to identify Parkinson’s disease (PD). The first goal of our study was to evaluate nigrosome-1 ex vivo using optimized high-resolution susceptibility sensitive MRI. Our second goal was to evaluate its diagnostic value in vivo using a clinical 3T SWI sequence to differentiate between PD and atypical parkinsonism (AP) in a cohort of patients with early-stage parkinsonism. Material/Methods Case-control pilot study to evaluate nigrosome-1 ex vivo (2 PD, 2 controls), using high-resolution susceptibility sensitive sequences at 11.7 T MRI. Next, evaluation of nigrosome-1 in vivo using a clinical 3 T SWI sequence in a prospective cohort of 60 patients with early-stage parkinsonism (39 PD, 21 AP). Moreover, 12 control subjects were scanned. The bilateral substantia nigra was evaluated by two neuroradiologists for the presence, absence or indecisive presence of nigrosome-1. The discriminative power was evaluated by Receiver-Operating Characteristic. Results We identified nigrosome-1 in ex vivo control subjects. Nigrosome-1 was not identified in the ex vivo PD cases. In our prospective clinical cohort study, the AUC for the swallow-tail sign to discriminate between PD and AP was 0.56 (0.41–0.71) for reader 1 and 0.68 (0.55–0.82) for reader 2. Conclusions The diagnostic accuracy of the swallow-tail sign was marginal to discriminate between PD and AP using our clinical 3 T SWI sequence.

  5. Molecular analysis and associated pathology of beak and feather disease virus isolated in Italy from young Congo African grey parrots (Psittacus erithacus) with an "atypical peracute form" of the disease.

    Science.gov (United States)

    Robino, Patrizia; Grego, Elena; Rossi, Giacomo; Bert, Elena; Tramuta, Clara; Stella, Maria Cristina; Bertoni, Pierfrancesco; Nebbia, Patrizia

    2014-01-01

    This study is the first report on the genetic and pathogenic characterization of beak and feather disease virus (BFDV) occurring in Italy. Twenty BFDV strains isolated in Italy from juvenile Congo African grey parrots (Psittacus erithacus) were investigated. Seventeen strains showed an "atypical peracute form" (aPF) of the disease, and three a chronic form (CF). The birds with aPF had been weaned, were independent as far as food and protection were concerned and apparently were without lesions. The gene coding for the putative coat protein was amplified in all isolates while the BFDV genome was sequenced completely in 10 samples, eight of them belonging to aPF affected birds and two from CF of the disease. All full genomes clustered into the J strain of BFDV, where two new subtypes were identified. Recombination analyses showed evidence of genetic exchanges in two BFDV genomes. In addition, a correlation between viral isolate and origin of the breeding material was shown, while an association between the genetic features of the virus and the clinical form was not observed. Histologically, apoptosis was detected frequently in aPF samples and sporadically in CF samples. Interestingly, BFDV antigens were detected in the nuclei and cytoplasm of such apoptotic cells. The data presented here support the hypothesis that, in the absence of a defined BFDV genetic variant accountable for a specific clinical form of psittacine beak and feather disease, differences in the apoptotic rate between aPF and CF are strictly host related. PMID:24968067

  6. ATYPICAL ANTIPSYCHOTICS FROM SCRATCH TO THE PRESENT

    Directory of Open Access Journals (Sweden)

    Ashish Chauhan*, Amit Mittal, Pradeep Kumar Arora

    2013-01-01

    Full Text Available Mental illness constitutes the second-largest disease burden in the United States. Psychosis is one of the most common and severe mental illnesses. It is an extremely devastating condition characterised by delusions, hallucinations, distortion of thoughts and deteriorating social functioning experiences. Psychosis in all human societies has approximately same incidence of occurrence as in accordance to “anthropo-parity principle.” It has large economic impact on various aspects of cognition, health, and quality of life which has devastated effects on its sufferers and facing them large economic burden. Psychosis (Schizophrenia is associated with an imbalance of the dopaminergic system, entailing hyper-stimulation of dopamine function in the brain, particularly in the mesolimbic pathway. Consequences of antipsychotic treatment are far reaching and expensive. Detrimental extrapyramidal side effects associated with conventional antipsychotics and non-compliance among patients limits long term treatment with conventional antipsychotics. It gives rise to a new class, atypical antipsychotics owning low propensity to cause EPS, efficacy against refractory cases and better control over negative symptoms, better tolerance and compliance along with lower relapse rate and safer adverse effect profile. Atypical antipsychotics have revolutionized the treatment of psychosis, now being the treatment of choice for patients with psychosis. The positive therapeutic experience with the atypical antipsychotics in the treatment of psychosis and their favourable effects outweighs their unfavourable adverse effects. Though atypical antipsychotics are widely prescribed in the treatment of schizophrenia, however not a single atypical antipsychotic drug having any exceptional efficacy and safety profile. Thus, there is still a lot of research needed to be carried out in the development of novel atypical antipsychotics. This review is comprehensive appraisal about

  7. Association of Sterile Pyuria and Coronary Artery Aneurysm in Kawasaki Syndrome

    Directory of Open Access Journals (Sweden)

    Mohsen Akhavan Sepahi

    2011-09-01

    Full Text Available "nKawasaki disease (KD is an inflammatory multiorgan disease of unknown etiology. The most dramatic organ involved is the heart. There were a few studies about cardiac involvement and sterile pyuria. This study guides to determine if sterile pyuria is associated with coronary artery aneurysm (CAA in KD patients and to consider it as a predicting factor for coronary artery involvement. Forty seven patients with KD were studied by echocardiography in admission and one month later. Urine analysis, complete blood count, erythrocyte sedimentation rate and C-reactive protein were measured in admission. Data were analyzed using SPSS-14 software. Patients' age was ranged from 13 month to 7 years old (mean age of 3.43 ± 1.54 years. Thirty patients (63.8% were male and 17 patients (36.1% were female. Cardiac involvement was detected in 32 patients (68% using echocardiography, of which CAA was reported in 8 cases (17%. Six of CAA (75% were in association with sterile pyuria, although it was statistically insignificant (P>0.05. Although the majority of patients with CAA had sterile pyuria, this association is not statistically significant, thus it couldn't be considered as a predicting factor for CAA.

  8. Atypical pyoderma gangrenosum mimicking an infectious process.

    Science.gov (United States)

    To, Derek; Wong, Aaron; Montessori, Valentina

    2014-01-01

    We present a patient with atypical pyoderma gangrenosum (APG), which involved the patient's arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics. PMID:25024856

  9. Atypical Pyoderma Gangrenosum Mimicking an Infectious Process

    Directory of Open Access Journals (Sweden)

    Derek To

    2014-01-01

    Full Text Available We present a patient with atypical pyoderma gangrenosum (APG, which involved the patient’s arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics.

  10. Atypical Pyoderma Gangrenosum Mimicking an Infectious Process

    OpenAIRE

    Derek To; Aaron Wong; Valentina Montessori

    2014-01-01

    We present a patient with atypical pyoderma gangrenosum (APG), which involved the patient's arm and hand. Hemorrhagic bullae and progressive ulcerations were initially thought to be secondary to an infectious process, but a biopsy revealed PG. Awareness of APG by infectious disease services may prevent unnecessary use of broad-spectrum antibiotics.

  11. Atypical idiopathic inflammatory demyelinating lesions

    DEFF Research Database (Denmark)

    Wallner-Blazek, Mirja; Rovira, Alex; Fillipp, Massimo; Rocca, Mara A; Miller, Andrew David; Schmierer, Klaus; Frederiksen, Jette; Gass, Achim; Gama, Hugo; Tilbery, Charles P; Rocha, Antonio J; Flores, José; Barkhof, Frederik; Seewann, Alexandra; Palace, Jacqueline; Yousry, Tarek; Montalban, Xavier; Enzinger, Christian; Fazekas, Franz

    2013-01-01

    Atypical lesions of a presumably idiopathic inflammatory demyelinating origin present quite variably and may pose diagnostic problems. The subsequent clinical course is also uncertain. We, therefore, wanted to clarify if atypical idiopathic inflammatory demyelinating lesions (AIIDLs) can be class...

  12. PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

    OpenAIRE

    Illingworth, M.A.; Carr, L J; Kurian, M.A.; Meyer, E.; Chong, W.K.; Manzur, A.Y.; Younis, R.; Hardy, C; McDonald, F.; Childs, A. M.; Stewart, B.; Warren, D.; KNEEN, R; King, M.D.; Hayflick, S.J.

    2014-01-01

    Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report highlights the diagnostic challenges associated with this atypical PLAN subtype. In this series, the ...

  13. The diagnosis and management of pre-invasive breast disease: Ductal carcinoma in situ (DCIS) and atypical ductal hyperplasia (ADH) – current definitions and classification

    International Nuclear Information System (INIS)

    Intraductal epithelial proliferations of the breast are at present classified into three groups; distinction is made histologically and clinically between usual epithelial hyperplasia and atypical ductal hyperplasia (ADH) and between ADH and ductal carcinoma in situ (DCIS). Although evidence indicates that these boundaries are not ideal on a morphological, immunohistochemical, or genetic basis, this three-tier system is accepted and used at present. The current definitions, histological features, and system of classification of ADH and DCIS are described in this manuscript

  14. Evaluation of seasonal patterns of Kawasaki Syndrome- and rotavirus-associated hospitalizations in California and New York, 2000-2005

    Directory of Open Access Journals (Sweden)

    Parashar Umesh D

    2009-10-01

    Full Text Available Abstract Background Kawasaki Syndrome (KS is an uncommon childhood disease with unknown etiology. It has been suggested that rotavirus infection may play a causative role in the development of KS. Methods To examine potential temporal associations between KS and rotavirus infection, seasonal patterns of KS- and rotavirus-associated hospitalizations among children in California and New York during 2000-2005 were compared. Results Rotavirus hospital admissions were markedly winter seasonal, with very few summer hospitalizations. KS hospitalizations occurred year-round but also peaked slightly during winter and spring. Conclusion The strong winter seasonal pattern of rotavirus clearly differed from the year-round pattern of KS hospitalizations. While the present study cannot completely rule out rotavirus as having a role in the development of KS, other agents must be involved in the etiology of KS.

  15. Changes of myeloid related protein-8/myeloid related protein-14 expressions in children with Kawasaki disease%川崎病患儿外周血髓细胞相关蛋白-8/髓细胞相关蛋白-14的表达变化

    Institute of Scientific and Technical Information of China (English)

    钱为国; 范秋红; 严文华; 吕海涛; 孙凌; 黄洁

    2013-01-01

    目的 观察髓细胞相关蛋白-8(MRP-8)/髓细胞相关蛋白-14(MRP-14)异二聚体在川崎病(KD)患儿血清中的表达变化,寻求KD的实验室诊断指标及药物治疗新靶点.方法 选择2009年7月至2010年12月确诊为KD的患儿46例为KD组,根据心脏彩超评定标准又分为冠状动脉扩张组(15例)和冠状动脉未扩张组(31例).选择同期住院有呼吸道感染而无心脏、血液、免疫系统等疾病的发热患儿25例为非KD发热组,选择同期本院门诊体检健康儿童20例为健康对照组.急性期及亚急性期分别采集外周静脉血,采用ELISA法测定血清MRP-8/MRP-14水平,采用半定量RT-PCR法检测白细胞中MRP-8 mRNA和MRP-14 mRNA相对水平.结果 KD组急性期和亚急性期MRP-8/MRP-14水平、MRP-8 mRNA和MRP-14 mRNA相对水平均明显高于非KD发热组和健康对照组(P均<0.05),非KD发热组与健康对照组比较差异无统计学意义(P>0.05).KD组急性期MRP-8/MRP-14水平、MRP-8 mRNA和MRP-14 mRNA相对水平均明显高于亚急性期(P均<0.001).在急性期及亚急性期冠状动脉扩张组血清MRP-8/MRP-14水平及白细胞MRP-8 mRNA和MRP-14 mRNA相对水平均明显高于同期冠状动脉未扩张组(P<0.05).结论 MRP-8/MRP-14可能参与KD血管炎的病理过程,并参与冠状动脉损害,可作为KD诊断及预测冠状动脉损害的指标之一,可为KD的治疗提供新靶点.%Objective To investigate the expression changes of myeloid-related protein-8 (MRP-8) and myeloid-related protein-14 (MRP-14) in children with Kawasaki disease (KD) and to obtain laboratory diagnostic serum markers and new targets for its drug therapy.Methods A total of 46 patients with KD(KD group) were enrolled from Jul.2009 to Dec.2010 and divided into the coronary artery dilatation(CAD) group(n =15) and the normal coronary artery group(n =31) ;Meanwhile,25 febrile patients with acute respiratory tract infection but without disease in the circulatory

  16. Pontine Infarct Presenting with Atypical Dental Pain: A Case Report.

    Science.gov (United States)

    Goel, Rajat; Kumar, Sanjeev; Panwar, Ajay; Singh, Abhishek B

    2015-01-01

    Orofacial pain' most commonly occurs due to dental causes like caries, gingivitis or periodontitis. Other common causes of 'orofacial pain' are sinusitis, temporomandibular joint(TMJ) dysfunction, otitis externa, tension headache and migraine. In some patients, the etiology of 'orofacial pain' remains undetected despite optimal evaluation. A few patients in the practice of clinical dentistry presents with dental pain without any identifiable dental etiology. Such patients are classified under the category of 'atypical odontalgia'. 'Atypical odontalgia' is reported to be prevalent in 2.1% of the individuals. 'Atypical orofacial pain' and 'atypical odontalgia' can result from the neurological diseases like multiple sclerosis, trigeminal neuralgia and herpes infection. Trigeminal neuralgia has been frequently documented as a cause of 'atypical orofacial pain' and 'atypical odontalgia'. There are a few isolated case reports of acute pontine stroke resulting in 'atypical orofacial pain' and 'atypical odontalgia'. However, pontine stroke as a cause of atypical odontalgia is limited to only a few cases, hence prevalence is not established. This case is one, where a patient presented with acute onset atypical dental pain with no identifiable dental etiology, further diagnosed as an acute pontine infarct on neuroimaging. A 40 years old male presented with acute onset, diffuse teeth pain on right side. Dental examination was normal. Magnetic resonance imaging(MRI) of the brain had an acute infarct in right pons near the trigeminal root entry zone(REZ). Pontine infarct presenting with dental pain as a manifestation of trigeminal neuropathy, has rarely been reported previously. This stresses on the importance of neuroradiology in evaluation of atypical cases of dental pain. PMID:26464604

  17. 320排动态容积CT冠状动脉成像在川崎病冠状动脉瘤远期随访中应用%Application of 320-detector row dynamic volume CT angiography in follow up of coronary artery aneurysms caused by Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    刘俊; 于明华; 许开元; 向峰; 周乾潮

    2015-01-01

    ObjectiveTo assess the values of 320-detector row dynamic volume CT angiography (CTA) and transthoracic echocardiography (TTE) in follow up of coronary artery aneurysm (CAA) caused by Kawasaki disease (KD).Methods320-de-tector row CTA and TTE were applied in long-term follow-up of 8 patients with CAA caused by KD.ResultsIn 8 patients, the mean age at onset was 41.63±22.70 months and the mean follow up time was 43.50±10.99 months. In acute phase, 3 cases of giant coronary artery aneurysms (GCAA) and 5 cases of mid-small CAA were diagnosed by TTE. A total of 16/32 arteries (50%) were involved. At the end of follow-up, 3 cases of GCAA and 2 cases of mid-small CAA were still diagnosed by TTE, and small CAAs were regressed in another 3 cases. A total of 6/32 arteries (18.75%) were involved. Simultaneously at the end of follow-up, a total of 7/32 arteries (21.9%) were involved by 320-detector row CTA. The distribution was consistent with that of TTE. Mean-while, there were one case of left circumlfex artery, one case of GCAA at distal of the right coronary artery, 2 cases of thrombus, 1 case of coronary stenosis and 2 cases of calciifcation.ConclusionsCAA caused by KD may be persistent for a long time. The thrombus, stenosis, and calciifcation of coronary can occurr at late phase in GCAA. TTE is sensitive and reliable to detect proxi-mal and middle segment of coronary lesions, but has limitations in detection of distal segment of coronary arteries. 320-detector row CTA has more comprehensively view of each coronary artery lesions and is especially sensitive and reliable to detect coro-nary thrombosis, calciifcation and narrowing in proximal and distal coronary arteries after acute phase.%目的:探讨320排动态容积CT冠状动脉成像(CTA)及经胸超声心动图(TTE)对川崎病(KD)合并冠状动脉瘤(CAA)中远期随访的应用价值。方法采用320排CTA、TTE进行中远期追踪随访8例KD合并CAA患儿。结果8例患儿平均发病年龄(41.63±22

  18. 320排动态容积CT冠状动脉成像在川崎病冠状动脉瘤远期随访中应用%Application of 320-detector row dynamic volume CT angiography in follow up of coronary artery aneurysms caused by Kawasaki disease

    Institute of Scientific and Technical Information of China (English)

    刘俊; 于明华; 许开元; 向峰; 周乾潮

    2015-01-01

    目的:探讨320排动态容积CT冠状动脉成像(CTA)及经胸超声心动图(TTE)对川崎病(KD)合并冠状动脉瘤(CAA)中远期随访的应用价值。方法采用320排CTA、TTE进行中远期追踪随访8例KD合并CAA患儿。结果8例患儿平均发病年龄(41.63±22.70)月,随访时间(43.50±10.99)月。急性期TTE诊断冠状动脉巨大瘤(GCAA)3例,中小瘤5例,共累及冠状动脉16/32支(50.0%)。随访观察终点时TTE示GCAA 3例及中小瘤2例仍存在,另3例小瘤消退,仍累及冠状动脉6/32支(18.6%)。随访观察终点时320排CTA检查示累及冠状动脉7/32支(21.9%),分布部位与TTE基本一致;另发现左回旋支扩张1例,右冠状动脉(RCA)远段GCAA 1处、血栓2处、狭窄1处、钙化2处。结论KD引起的CAA可长期存在, GCAA后期可发生冠状动脉血栓、狭窄或钙化。TTE观察近中段冠脉改变敏感可靠,但对于中远段冠脉损害的观察有局限性。320排CTA能较全面地观察各支冠状动脉的病变,尤其对急性期后冠状动脉血栓,钙化及近、远端狭窄的观察敏感可靠。%ObjectiveTo assess the values of 320-detector row dynamic volume CT angiography (CTA) and transthoracic echocardiography (TTE) in follow up of coronary artery aneurysm (CAA) caused by Kawasaki disease (KD).Methods320-de-tector row CTA and TTE were applied in long-term follow-up of 8 patients with CAA caused by KD.ResultsIn 8 patients, the mean age at onset was 41.63±22.70 months and the mean follow up time was 43.50±10.99 months. In acute phase, 3 cases of giant coronary artery aneurysms (GCAA) and 5 cases of mid-small CAA were diagnosed by TTE. A total of 16/32 arteries (50%) were involved. At the end of follow-up, 3 cases of GCAA and 2 cases of mid-small CAA were still diagnosed by TTE, and small CAAs were regressed in another 3 cases. A total of 6/32 arteries (18.75%) were involved. Simultaneously at the end of follow-up, a total of 7/32 arteries (21

  19. Dengue fever: atypical manifestation

    Directory of Open Access Journals (Sweden)

    Nataraj Gangasiddaiah

    2014-08-01

    Full Text Available Dengue fever is affecting millions of population globally. For the past one decade, we have seen several outbreaks and even causing significant mortality of affected population. We witnessed numerous pattern and multisystem presentation of dengue in this period. The CNS manifestation like encephalitis, polyneuropathy (GB like syndrome and paresthesias were uncommonly reported priorly. Pancreatitis, polyserositis, carditis of varying severity and hepatic failure are the, some of atypical manifestations observed in recent out breaks. So dengue illness can presents with multi system involvement and can account to significant mortality. Here an attempt was done to present varying, uncommon and atypical manifestation of dengue illness. [Int J Res Med Sci 2014; 2(4.000: 1804-1806

  20. Endocervical Atypical Polypoid Adenomyoma.

    Science.gov (United States)

    Protopapas, Athanasios; Sotiropoulou, Maria; Athanasiou, Stavros; Loutradis, Dimitrios

    2016-01-01

    Atypical polypoid adenomyomas (APAMs) are rare uterine tumors that occur predominantly in premenopausal women, with less than 250 cases reported so far, worldwide. They may recur after treatment, and they may coexist with, or precede development of an endometrial adenocarcinoma. For this reason cases managed with conservative surgery or medical therapies require long-term follow-up. We report the case of a 41 years old nulliparous patient who during a diagnostic hysteroscopy was found with an endocervical atypical polypoid adenomyoma (APAM). The patient was desirous of a pregnancy, reported menometrorrhagia, and had a coexistent 5 cm, grade 2, submucous myoma, 3 endometrial polyps, and diffuse adenomyosis. She was treated with hysteroscopic resection of the APAM and polyps, plus laparoscopic myomectomy and wedge resection of adenomyosis. She is on an IVF list and after 4 months she is symptoms-free. PMID:26304721

  1. Psychiatric syndromes associated with atypical chest pain

    Directory of Open Access Journals (Sweden)

    Nikolić Gordana

    2010-01-01

    Full Text Available Background/Aim. Chest pain often indicates coronary disease, but in 25% of patients there is no evidence of ischemic heart disease using standard diagnostic tests. Beside that, cardiologic examinations are repeated several times for months. If other medical causes could not be found, there is a possibility that chest pain is a symptom of psychiatric disorder. The aim of this study was to determine the presence of psychiatric syndromes, increased somatization, anxiety, stress life events exposure and characteristic of chest pain expression in persons with atypical chest pain and coronary patients, as well as to define predictive parameters for atypical chest pain. Method. We compared 30 patients with atypical chest pain (E group to 30 coronary patients (K group, after cardiological and psychiatric evaluation. We have applied: Mini International Neuropsychiatric Interview (MINI, The Symptom Checklist 90-R (SCL-90 R, Beck Anxiety Inventory (BAI, Holms-Rahe Scale of stress life events (H-R, Questionnaire for pain expression Pain-O-Meter (POM. Significant differences between groups and predictive value of the parameters for atypical chest pain were determined. Results. The E group participants compared to the group K were younger (33.4 ± 5.4 : 48.3 ± 6,4 years, p < 0.001, had a moderate anxiety level (20.4 ± 11.9 : 9.6 ± 3.8, p < 0.001, panic and somatiform disorders were present in the half of the E group, as well as eleveted somatization score (SOM ≥ 63 -50% : 10%, p < 0.01 and a higher H-R score level (102.0 ± 52.2 : 46.5 ± 55.0, p < 0.001. Pain was mild, accompanied with panic. The half of the E group subjects had somatoform and panic disorders. Conclusion. Somatoform and panic disorders are associated with atypical chest pain. Pain expression is mild, accompained with panic. Predictive factors for atypical chest pain are: age under 40, anxiety level > 20, somatization ≥ 63, presence of panic and somatoform disorders, H-R score > 102

  2. Atypical femoral fractures

    OpenAIRE

    Giannini, Sandro; Chiarello, Eugenio; Tedesco, Giuseppe; Cadossi, Matteo; Luciani, Deianira; Mazzotti, Antonio; Donati, Davide Maria

    2013-01-01

    Bisphosphonates (BPs) represent the most widely used therapy for osteoporosis. Recently, a relationship between long-term treatment with BPs and a subset of atypical femoral fractures (AFFs) from below the lesser trochanter to the sovracondilar line has been described. Many etiopathogenetic theories have been invoked to explain AFFs: reduced bone turnover and increased osteoblast bone apposition with accumulation of microdamage and decreased bone toughness with subsequent increased risk of mi...

  3. Conns' syndrome - atypical presentations

    International Nuclear Information System (INIS)

    Primary hyperaldosteronism (Conns' syndrome) commonly presents with a combination of clinical features of hypokalemia and hypertension. Atypical presentations like normotension, normokalemia and neurological ailments are described in few cases. We encountered two such cases, the first presenting with acute neurological complaint and second case having insignificant hypertension. Both the patients had a characteristic biochemical and imaging profile consistent with primary hyperaldosteronism and responded to surgical resection of adrenal adenoma. (author)

  4. Typical and atypical AIS. Pathogenesis.

    Science.gov (United States)

    Dudin, M; Pinchuk, D

    2012-01-01

    AIS hypothesis has the right to recognition, if it explains the transition of "healthy" vertebra column into status of "scoliotic" one. AIS is the most investigated disease in the history of orthopedics, but up the present time there is no clear explanation of some its phenomena: vertebra column mono-form deformation along with its poly etiology character, interrelation of its origin and development and child's growth process etc. The key for authors' view at AIS was scoliosis with non-standard (concave side) rotation. On the bases of its' multifunctional instrumental investigation results (Rtg, EMG, EEG, optical topography, hormonal and neuropeptides trials, thermo-vision methods and other) in comparison with typical AIS was worked out the new hypothesis, part of it is suggested for discussion. In the work under observation is the sequence of appearance of typical and atypical scoliosis symptomatology beginning from the preclinical stage. PMID:22744477

  5. Osteogenesis imperfecta: an atypical association

    Directory of Open Access Journals (Sweden)

    Snehal Mallakmir

    2015-06-01

    Full Text Available Osteogenesis Imperfecta (OI also known as and lsquo;brittle bone disease', is a clinically heterogeneous connective tissue disorder with defect in type I collagen. The more prevalent autosomal dominant forms of OI are caused by primary defects in type I collagen, while autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Few cases of OI associated with atypical features have been reported. We report a case of 54 days male child of OI associated with pyloric stenosis. The case probably is a form of autosomal recessive OI with severe phenotype. [Int J Res Med Sci 2015; 3(3.000: 783-785

  6. Ohta-jasnow-kawasaki approximation for nonconserved coarsening under shear

    Science.gov (United States)

    Cavagna; Bray; Travasso

    2000-10-01

    We analytically study coarsening dynamics in a system with nonconserved scalar order parameter, when a uniform time-independent shear flow is present. We use an anisotropic version of the Ohta-Jasnow-Kawasaki approximation to calculate the growth exponents in two and three dimensions: for d=3 the exponents we find are the same as expected on the basis of simple scaling arguments, that is, 3/2 in the flow direction and 1/2 in all the other directions, while for d=2 we find an unusual behavior, in that the domains experience an unlimited narrowing for very large times and a nontrivial dynamical scaling appears. In addition, we consider the case where an oscillatory shear is applied to a two-dimensional system, finding in this case a standard t(1/2) growth, modulated by periodic oscillations. We support our two-dimensional results by means of numerical simulations and we propose to test our predictions by experiments on twisted nematic liquid crystals. PMID:11089010

  7. Interventional trials in atypical parkinsonism.

    Science.gov (United States)

    Eschlböck, S; Krismer, F; Wenning, G K

    2016-01-01

    Atypical parkinson disorders (APD) are rapidly progressive neurodegenerative diseases with a variable clinical presentation that may even mimic Parkinson's disease. Multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are commonly summarized under this umbrella term. Significant developments in research have expanded knowledge and have broadened available symptomatic treatments, particularly for the treatment of neurogenic orthostatic hypotension. Nonetheless, symptomatic support still remains limited in all of these disorders. Currently, there exists no effective treatment to delay disease progression and disease-modifying trials have failed to provide coherent and convincing results. Recent trials of rasagiline (in MSA), rifampicin (in MSA), tideglusib (in PSP) and davunetide (in PSP) reported negative results. Nevertheless, large cohorts of patients were recruited for interventional studies in the last few years which improved our understanding of trial methodology in APDs immensely. In addition, remarkable progress in basic research has been reported recently and will provide a solid foundation for future therapeutic trials. In this review, we will summarize published randomized, placebo-controlled clinical trials (RCTs) in APDs. Additionally, the design of ongoing and unpublished interventions will be presented. PMID:26421389

  8. Atypical sporadic bovine leukosis in a beef feedlot heifer

    OpenAIRE

    Hendrick, Steven H.

    2002-01-01

    This case is considered atypical because the clinical signs are exemplary of both the systemic and localized forms of the disease. Although diseases are commonly described and differentiated as either multisystemic or localized, as demonstrated here, disease expression can be a continuum between 2 distinct phenotypes.

  9. An Atypical Case of Pityriasis Rosea Gigantea after Influenza Vaccination

    Directory of Open Access Journals (Sweden)

    Dimitrios Papakostas

    2014-04-01

    Full Text Available Pityriasis rosea is a common erythematosquamous eruption, typically presenting along the cleavage lines of the skin. A wide spectrum of atypical manifestations may challenge even the most experienced physician. Here we report a rare case of a suberythrodermic pityriasis rosea with gigantic plaques after an influenza vaccination, and we discuss the possible triggers of atypical manifestations of such a common dermatological disease in the setting of an altered immunity.

  10. Atypical depression in the structure of organic mental disorders (literature review

    Directory of Open Access Journals (Sweden)

    Leonov S.F.

    2014-09-01

    Full Text Available The review of literature presents current data on cli¬nical picture and diagnostics of atypical depression. Rubric “atypical depression” includes a variety of depressive states characterized by reactively caused changes of mood, sensitivity to interpersonal contacts, inverted vegetative and somatic symptoms such as increased appetite and hypersomnia. The article considers the place of atypical depression in the structure of organic mental disorders. Positions of foreign authors that produce atypical depression as a clinical entity in the structure of Bipolar affective disorder II type are represented, the views of other authors on the structure of atypical depression are considered. The analysis of national concept of non-circular depression is carried out. Questions of atypical affective conditions acquire special significance due to preparation of International Classification of Diseases of the 11th revision, because inclusion in it of Bipolar affective disorder II type, a manifestation of which is considered to be atypical depressions, is under discussion.

  11. Primary lateral sclerosis mimicking atypical parkinsonism

    DEFF Research Database (Denmark)

    Norlinah, Ibrahim M; Bhatia, Kailash P; Østergaard, Karen;

    2007-01-01

    the atypical parkinsonian syndromes. Here we describe five patients initially referred with a diagnosis of levodopa-unresponsive atypical parkinsonism (n = 4) or primary progressive multiple sclerosis (n = 1), but subsequently found to have features consistent with PLS instead. Onset age varied from......Primary lateral sclerosis (PLS), the upper motor neurone variant of motor neurone disease, is characterized by progressive spinal or bulbar spasticity with minimal motor weakness. Rarely, PLS may present with clinical features resembling parkinsonism resulting in occasional misdiagnosis as one of...... eventually seen in all patients. Anterior horn cell involvement developed in three cases. Early gait disturbances resulting in falls were seen in all patients and none of them responded to dopaminergic medications. Two patients underwent dopamine transporter (DaT) SPECT scanning with normal results. Other...

  12. Dermatofibroma: Atypical presentations

    Directory of Open Access Journals (Sweden)

    Mousumi Roy Bandyopadhyay

    2016-01-01

    Full Text Available Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma.

  13. Dermatofibroma: Atypical Presentations.

    Science.gov (United States)

    Bandyopadhyay, Mousumi Roy; Besra, Mrinal; Dutta, Somasree; Sarkar, Somnath

    2016-01-01

    Dermatofibroma is a common benign fibrohistiocytic tumor and its diagnosis is easy when it presents classical clinicopathological features. However, a dermatofibroma may show a wide variety of clinicopathological variants and, therefore, the diagnosis may be difficult. The typical dermatofibroma generally occurs as a single or multiple firm reddish-brown nodules. We report here two atypical presentations of dermatofibroma - Atrophic dermatofibroma and keloidal presentation of dermatofibroma. Clinical dermal atrophy is a common phenomenon in dermatofibromas as demonstrated by the dimpling on lateral pressure. However, this feature is exaggerated in the atrophic variant of dermatofibroma. Atrophic dermatofibroma is defined by dermal atrophy of more than 50% of the lesion apart from the usual features of common dermatofibroma. The keloidal variant of dermatofibroma should not be overlooked as a simple keloid. The findings of keloidal change in dermatofibromas may support that trauma is a possible cause of dermatofibroma. PMID:26955137

  14. A Rare Case: Atypical Measles

    Directory of Open Access Journals (Sweden)

    Ümmü Sena Sarı

    2016-03-01

    Full Text Available Atypical measles has been described in persons who were exposed to wild measles virus several years after they were immunized with killed measles vaccine. Occasionally, it can be caused by live measles vaccines also. It is a clinical picture different from typical measles. In this report, an adult patient with a history of immunization, who presented with high fever, maculopapular rash starting at the palms and soles, and pneumonia, is presented. Atypical measles that was first reported in the 1970s in mostly kids should be considered for differential diagnosis in adult cases presenting with high fever, atypical rash and pneumonia even if patients have a history of immunization

  15. Atypical presentations of neuromyelitis optica

    Directory of Open Access Journals (Sweden)

    Douglas Sato

    2011-10-01

    Full Text Available Neuromyelitis optica (NMO is an inflammatory disease of central nervous system classically characterized by acute, severe episodes of optic neuritis and longitudinally extensive transverse myelitis, usually with a relapsing course. The identification of an autoantibody exclusively detected in NMO patients against aquaporin-4 (AQP-4 has allowed identification of cases beyond the classical phenotype. Brain lesions, once thought as infrequent, can be observed in NMO patients, but lesions have different characteristics from the ones seen in multiple sclerosis. Additionally, some AQP-4 antibody positive patients may present with a variety of symptoms not being restricted to optic neuritis and acute myelitis during the first attack or in a relapse. Examples are not limited to, but may include patients only with brain and/or brainstem lesions, narcolepsy with hypothalamic lesions or patients with intractable hiccups, nausea and vomiting. The prompt identification of NMO patients with atypical presentations may benefit these patients with institution of early treatment to reduce disability and prevent further attacks.

  16. Atypical growth of Renibacterium salmoninarum in subclinical infections.

    Science.gov (United States)

    Hirvelä-Koski, V; Pohjanvirta, T; Koski, P; Sukura, A

    2006-01-01

    Two growth types of Renibacterium salmoninarum were isolated from subclinically infected rainbow trout, one producing the smooth colonies typical of R. salmoninarum and the other forming a thin film on the surface of the agar with no separate colonies. The atypical growth was present on kidney disease medium agar in primary cultures of the kidney but not on selective kidney disease medium (SKDM). Fluorescent antibody staining of the fresh isolate and polymerase chain reaction amplification were the most reliable techniques to identify the atypical growth of R. salmoninarum. The condition was reversible, with growth reverting from atypical to the smooth colony form in experimentally infected rainbow trout and under laboratory conditions. There was no mortality, or any clinical signs of bacterial kidney disease (BKD) in the fish challenged with the atypical growth, although small numbers of smooth colonies of R. salmoninarum were isolated from 8% of these fish. The atypical growth reported here may explain some of the failures of culture, when SKDM agar alone is used for the detection of BKD in subclinically infected fish. PMID:16351695

  17. Retroviruses and human disease.

    OpenAIRE

    Weiss, R A

    1987-01-01

    Over the past 25 years animal retroviruses have been favoured subjects of research by virologists, oncologists, and molecular biologists. Retroviruses have given us reverse transcriptase, oncogenes, and cloning vectors that may one day be exploited for human gene therapy. They have also given us leukaemia and the acquired immune deficiency syndrome (AIDS). Kawasaki disease and tropical spastic paraparesis are thought to be associated with retrovirus infection, and other diseases such as de Qu...

  18. Early Onset of Atypical Proliferative Lesions in the Lungs of a Libby Amphibole (LA) Exposed Rat Model of Cardiovascular Disease-Associated Iron Overlo

    Science.gov (United States)

    Rationale: Miners and residents of Libby, Montana have increased incidences of asbestos-related diseases associated with exposure to amphibole contaminated vermiculite. Amphiboles have been shown to bind endogenous iron and modulate fiber induced inflammatory response. We hypoth...

  19. A Rare Case: Atypical Measles

    OpenAIRE

    Ümmü Sena Sarı; Figen Kaptan

    2016-01-01

    Atypical measles has been described in persons who were exposed to wild measles virus several years after they were immunized with killed measles vaccine. Occasionally, it can be caused by live measles vaccines also. It is a clinical picture different from typical measles. In this report, an adult patient with a history of immunization, who presented with high fever, maculopapular rash starting at the palms and soles, and pneumonia, is presented. Atypical measles that was ...

  20. Atypical Chronic Myelogenous Leukemia

    Science.gov (United States)

    ... myeloproliferative neoplasms, leukemia , and other conditions . Chronic Myelomonocytic Leukemia Key Points Chronic myelomonocytic leukemia is a disease ... chance of recovery) and treatment options. Chronic myelomonocytic leukemia is a disease in which too many myelocytes ...

  1. Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

    Science.gov (United States)

    Scholz, Sonja W; Bras, Jose

    2015-01-01

    Atypical parkinsonism syndromes, such as dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy and corticobasal degeneration, are neurodegenerative diseases with complex clinical and pathological features. Heterogeneity in clinical presentations, possible secondary determinants as well as mimic syndromes pose a major challenge to accurately diagnose patients suffering from these devastating conditions. Over the last two decades, significant advancements in genomic technologies have provided us with increasing insights into the molecular pathogenesis of atypical parkinsonism and their intriguing relationships to related neurodegenerative diseases, fueling new hopes to incorporate molecular knowledge into our diagnostic, prognostic and therapeutic approaches towards managing these conditions. In this review article, we summarize the current understanding of genetic mechanisms implicated in atypical parkinsonism syndromes. We further highlight mimic syndromes relevant to differential considerations and possible future directions. PMID:26501269

  2. Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

    Directory of Open Access Journals (Sweden)

    Sonja W. Scholz

    2015-10-01

    Full Text Available Atypical parkinsonism syndromes, such as dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy and corticobasal degeneration, are neurodegenerative diseases with complex clinical and pathological features. Heterogeneity in clinical presentations, possible secondary determinants as well as mimic syndromes pose a major challenge to accurately diagnose patients suffering from these devastating conditions. Over the last two decades, significant advancements in genomic technologies have provided us with increasing insights into the molecular pathogenesis of atypical parkinsonism and their intriguing relationships to related neurodegenerative diseases, fueling new hopes to incorporate molecular knowledge into our diagnostic, prognostic and therapeutic approaches towards managing these conditions. In this review article, we summarize the current understanding of genetic mechanisms implicated in atypical parkinsonism syndromes. We further highlight mimic syndromes relevant to differential considerations and possible future directions.

  3. Atypical Hemolytic-Uremic Syndrome: A Clinical Review.

    Science.gov (United States)

    Nayer, Ali; Asif, Arif

    2016-01-01

    Atypical hemolytic-uremic syndrome (HUS) is a rare life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and ischemic injury to organs, especially the kidneys. Microvascular injury and thrombosis are the dominant histologic findings. Complement activation through the alternative pathway plays a critical role in the pathogenesis of atypical HUS. Genetic abnormalities involving complement regulatory proteins and complement components form the molecular basis for complement activation. Endothelial cell dysfunction, probably because of the effects of complement activation, is an intermediate stage in the pathophysiologic cascade. Atypical HUS has a grave prognosis. Although mortality approaches 25% during the acute phase, end-stage renal disease develops in nearly half of patients within a year. Atypical HUS has a high recurrence rate after renal transplantation, and recurrent disease often leads to graft loss. Plasma therapy in the form of plasma exchange or infusion has remained the standard treatment for atypical HUS. However, many patients do not respond to plasma therapy and some require prolonged treatment. Approved by the Food and Drug Administration in the treatment of atypical HUS, eculizumab is a humanized monoclonal antibody that blocks cleavage of complement C5 into biologically active mediators of inflammation and cytolysis. Although case reports have shown the efficacy of eculizumab, randomized clinical trials are lacking. Therapeutic strategies targeting endothelial cells have demonstrated promising results in experimental settings. Therefore, inhibitors of angiotensin-converting enzyme, HMG-CoA reductase, and xanthine oxidase as well as antioxidants, such as ascorbic acid, may have salutary effects in patients with atypical HUS. PMID:24681522

  4. Trisomy 18 with unilateral atypical ectrodactyly

    Energy Technology Data Exchange (ETDEWEB)

    Rogers, R.C. [Greenwood Genetic Center, SC (United States)

    1994-01-01

    Becerra et al. recently reported on an infant with multiple congenital anomalies who had trisomy 18. This preterm infant presented with bilateral ectrodactyly of feet, small cleft palate, esophageal atresia with associated tracheoesophageal fistula, congenital heart disease and other anomalies. The authors referenced article by Castle and Bernstein, in which they reported a male with trisomy 18 and cleft foot as well as a review of the literature which showed 2 other infants with trisomy 18 and ectrodactyly of the feet. An additional case of trisomy 18 associated with multiple congenital anomalies, including unilaterial, atypical ectrodactyly of the left foot.

  5. Atypical calcific tendinitis with cortical erosions

    International Nuclear Information System (INIS)

    Objective. To present and discuss six cases of calcific tendinitis in atypical locations (one at the insertion of the pectoralis major and five at the insertion of the gluteus maximus).Patients and results. All cases were associated with cortical erosions, and five had soft tissue calcifications. The initial presentation was confusing and the patients were suspected of having infection or neoplastic disease.Conclusion. Calcific tendinitis is a self-limiting condition. It is important to recognize the imaging features of this condition to avoid unnecessary investigation and surgery. (orig.)

  6. Atypical calcific tendinitis with cortical erosions

    Energy Technology Data Exchange (ETDEWEB)

    Kraemer, E.J. [College of Medicine, Univ. of Iowa, Iowa City, IA (United States); El-Khoury, G.Y. [Dept. of Radiology and Orthopaedics, Univ. of Iowa, Iowa City, IA (United States)

    2000-12-01

    Objective. To present and discuss six cases of calcific tendinitis in atypical locations (one at the insertion of the pectoralis major and five at the insertion of the gluteus maximus).Patients and results. All cases were associated with cortical erosions, and five had soft tissue calcifications. The initial presentation was confusing and the patients were suspected of having infection or neoplastic disease.Conclusion. Calcific tendinitis is a self-limiting condition. It is important to recognize the imaging features of this condition to avoid unnecessary investigation and surgery. (orig.)

  7. Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

    OpenAIRE

    Benjamin Cocanougher; Umut Aypar; Amber McDonald; Linda Hasadsri; Bennett, Michael J; Edward Highsmith, W.; Kristin D'Aco

    2015-01-01

    Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro-developmental symptoms. We present a teenage compound heterozygote for a known pathogenic mutation (H132Q) and a novel variant of unknown significance (S222N), with nearly absent erythrocyte GALT enzyme activity but normal biomarkers and only mild a...

  8. SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer`s disease family

    Energy Technology Data Exchange (ETDEWEB)

    Perry, R.T.; Go, R.C.P.; Harrell, L.E.; Acton, R.T. [Univ. of Alabama, Birmingham, AL (United States)

    1995-02-27

    Alzheimer`s disease (AD) is a progressive, degenerative neurological disorder of the central nervous system. AD is the fourth leading cause of death in elderly persons 65 years or older in Western industrialized societies. The etiology of AD is unknown, but clinical, pathological, epidemiological, and molecular investigations suggest it is etiologically heterogeneous. Mutations in the amyloid protein are rare and segregate with the disease in a few early-onset familial AD (FAD) families. Similarities between AD and the unconventional viral (UCV) diseases, and between the amyloid and prion proteins, implicate the human prion protein gene (PRNP) as another candidate gene. Single strand conformation polymorphism (SSCP) analysis was used to screen for mutations at this locus in 82 AD patients from 54 families (30 FAD), vs. 39 age-matched controls. A 24-bp deletion around codon 68 that codes for one of five Gly-Pro rich octarepeats was identified in two affected sibs and one offspring of one late-onset FAD family. Two other affected sibs, three unaffected sibs, and three offspring from this family, in addition to one sporadic AD patient and three age-matched controls, were heterozygous for another octarepeat deletion located around codon 82. Two of the four affected sibs had features of PD, including one who was autopsy-verified AD and PD. Although these deletions were found infrequently in other AD patients and controls, they appear to be a rare polymorphism that is segregating in this FAD family. It does not appear that mutations at the PRNP locus are frequently associated with AD in this population. 54 refs., 4 figs.

  9. Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

    Directory of Open Access Journals (Sweden)

    Benjamin Cocanougher

    2015-03-01

    Full Text Available Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro-developmental symptoms. We present a teenage compound heterozygote for a known pathogenic mutation (H132Q and a novel variant of unknown significance (S222N, with nearly absent erythrocyte GALT enzyme activity but normal biomarkers and only mild anxiety despite diet non-adherence. This case is similar to a previously reported S135L mutation. In this report we investigate the novel S222N variant and critically evaluate a clinically puzzling case.

  10. Uremic parkinsonism with atypical phenotypes and radiologic features.

    Science.gov (United States)

    Yoon, Jee-Eun; Kim, Ji Sun; Park, Jeong-Ho; Lee, Kyung-Bok; Roh, Hakjae; Park, Sung Tae; Cho, Jin Whan; Ahn, Moo-Young

    2016-04-01

    Uremic encephalopathy with bilateral basal ganglia lesions has been reported as an acute neurometabolic disease which shows reversible clinical course and brain imaging features. The exact nature and pathophysiology have not been well established. We encountered two patients who showed a relapsing and aggravating course and an atypical phenotype including parkinsonism with paroxysmal dystonic head tremor and acute onset monoparesis of the lower extremity. They also showed unusual radiological findings which revealed combined lesions in the basal ganglia and cortex, persistent hemorrhagic transformation, and focal ischemic lesion in the internal capsule. Herein, we present the unusual phenomenology with atypical radiologic findings and suggest the possible multifactorial pathogenesis of uremic encephalopathy. PMID:26631408

  11. Ichthyosiform mycosis fungoides with alopecia and atypical membranous nephropathy

    Directory of Open Access Journals (Sweden)

    Qiang Zhou

    2011-01-01

    Full Text Available We describe here a rare case of variant of mycosis fungoides (MF: ichthyosiform MF with alopecia and atypical membranous nephropathy. The diagnosis was made based on the following findings: generalized ichthyosis-like eruption, alopecia, enlarged superficial lymph nodes, proteinuria, and hematuria, the histological features of the skin biopsy from both ichthyotic and alopecic lesions with immunohistochemical staining, and the renal biopsy examination with immunofluorescence. The histological examination of ichthyotic and alopecic lesions displayed a predominant infiltration of atypical lymphocytes in the upper dermis with the characteristics of epidermotropism and folliculotropism. Immunohistochemical studies demonstrated that most infiltrated atypical lymphocytes were CD3, CD4, and CD45RO positive, whereas negative for CD5, CD7, CD20, CD30, and CD56. A renal biopsy examination revealed atypical membranous nephropathy with deposition of immunoglobulin G (IgG, IgM, IgA, C1q, and C3. In this case atypical membranous nephropathy was involved, which is very uncommon and has never been presented in the literature to date. Although ichthyosiform MF usually features a relatively favorable course, diffuse alopecia and the renal involvement in this case might indicate aggressive disease and poor prognosis.

  12. Atypical Imaging Findings in Primary Central Nervous System Lymphoma

    Directory of Open Access Journals (Sweden)

    Zahra Afravi

    2010-05-01

    Full Text Available Background/Objective: The incidence of primary CNS lymphomas (PCNSL is increasing. Timely diagnosis of PCNSL can lead to proper therapeutic management. There are some atypical imaging findings that may easily be misdiagnosed as other pathologic processes such as infectious and demyelinative diseases. As a result, histopathologic diagnosis is necessary for all suspected lesions."nPatients and Methods: In this research we studied 120 cases of PCNSL over the past 16 years. Some of them had atypical imaging findings, suggesting many differential diagnoses. Having said that, stereotactic biopsy was performed for all cases and the diagnosis was proved."nResults: We selected some interesting cases with atypical imaging findings of PCNSL, which were unlikely to be diagnosed without histopathologic evaluation. "nConclusion: PCNSL must be kept in mind as a differential diagnosis for other brain lesions. Histopathologic diagnosis is necessary for prompt management.

  13. Atypical parkinsonism of Japan: amyotrophic lateral sclerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update.

    Science.gov (United States)

    Kuzuhara, Shigeki; Kokubo, Yasumasa

    2005-08-01

    An update of the endemic parkinsonism-dementia complex (PDC) frequently associated with amyotrophic lateral sclerosis (ALS) in the high prevalence ALS focus of the Kii peninsula of Japan is presented. The initial symptom was parkinsonian gait or hypobulia/amnesia, which was followed by akinesia, rigidity, occasional tremor, bradyphrenia, abulia and amnesia, and finally by akinetic mutism. In several years, most of the patients developed ALS symptoms such as muscle atrophy, bulbar palsy, and upper motor neuron signs. Magnetic resonance imaging and computed tomography of the brain showed marked atrophy of the temporal and frontal lobes and the cerebral blood flow reduction on single-photon emission computed tomography. Marked loss of nerve cells associated with abundant neurofibrillar tangles (NFTs) in the entire central nervous system, most predominantly in the brainstem and temporal lobe was characteristic. Concomitant ALS pathology involving the upper and lower motor neurons was common, and senile plaques were absent in most cases. NFTs consisted of twisted tubules on electron microscopy. Western blot of tau protein showed three bands consisting of six tau isoforms, similar to those of Alzheimer's disease. A family history of ALS/PDC was recorded in more than 70% of patients, but no abnormal mutation or polymorphism was found in the genes of SOD1, tau, and apolipoprotein E. Familial nature and continuing morbidity of Kii ALS/PDC suggest that genetic factors may be more likely in its pathogenesis. PMID:16092099

  14. Diagnostic and therapeutic dilemma associated with atypical glandular cells on liquid-based cervical cytology.

    LENUS (Irish Health Repository)

    Chummun, K

    2012-12-01

    In 2008, the management of women in Ireland with atypical glandular cells changed to immediate referral to colposcopy. The optimal management of these women is unclear. A balance between the detection of occult disease and overtreatment is required.

  15. Atherosclerotic Cardiovascular Disease Beginning in Childhood

    OpenAIRE

    Hong, Young Mi

    2010-01-01

    Although the clinical manifestations of cardiovascular disease (CVD), such as myocardial infarction, stroke, and peripheral vascular disease, appear from middle age, the process of atherosclerosis can begin early in childhood. The early stage and progression of atherosclerosis in youth are influenced by risk factors that include obesity, hypertension, dyslipidemia, and smoking, and by the presence of specific diseases, such as diabetes mellitus and Kawasaki disease (KD). The existing evidence...

  16. Recognition and diagnosis of atypical depression.

    Science.gov (United States)

    Thase, Michael E

    2007-01-01

    The term atypical depression dates to the first wave of reports describing differential response to monoamine oxidase inhibitors (MAOIs) and tricyclic antidepressants (TCAs). In contrast to more TCA-responsive depressions, patients with so-called atypical symptoms (e.g., hypersomnia, interpersonal sensitivity, leaden paralysis, increased appetite and/or weight, and phobic anxiety) were observed to be more responsive to MAOIs. After several decades of controversy and debate, the phrase "with atypical features" was added as an episode specifier in the DSM-IV in 1994. The 1-year prevalence of the defined atypical depression subtype is approximately 1% to 4%; around 15% to 29% of patients with major depressive disorder have atypical depression. Hardly "atypical" in contemporary contexts, atypical depression also is common in dysthymic bipolar II disorders and is notable for its early age at onset, more chronic course, and high rates of comorbidity with social phobia and panic disorder with agoraphobia. The requirement of preserved mood reactivity is arguably the most controversial of the DSM-IV criteria for atypical depression. When compared with melancholia, the neurobiological profiles of patients with atypical depression are relatively normal. The utility of the atypical depression subtype for differential therapeutics diminished substantially when the TCAs were supplanted as first-line antidepressants by the selective serotonin reuptake inhibitors. Although introduction of safer MAOIs has fostered renewed interest in atypical depression, the validity and importance of the DSM-IV definition of atypical depression for the nosology of affective illness remains an open question. PMID:17640153

  17. Segmental Neurofibromatosis: Atypical Localisation

    OpenAIRE

    Filiz Topaloğlu Demir; Burçe Can; Berkant Oman; İlkin Zindancı; Tülay Zenginkinet; Mukaddes Kavala

    2015-01-01

    Neurofibromatosis (NF) is a genetic disease leading pathological findings in skin, soft tissue, bone and nervous system by affecting neural crest cells. Due to its heterogeneity neurofibromatosis was divided into eight different subgroups (NF-I NF-VIII) by Riccardi. Segmental neurofibromatosis (NF type V) is characterized by cutaneous neurofibromas and Café-au-lait spots limited with a segment of dermatome. Here we report this case with numerous, painless cutaneous nodules showing extension f...

  18. Consideraciones orales del síndrome de Kawasaki: Descripción de un caso clínico Oral considerations of Kawasaki syndrome: A case report

    OpenAIRE

    M.C. Figueiredo; P.D.S. Pires; D.D. Faustino-Silva; M.O. Cernicchiaro; R. Squef

    2010-01-01

    El objetivo del presente estudio es presentar un caso clínico y revisar la literatura existente sobre el Síndrome de Kawasaki (SK) tan frecuente en pacientes con necesidades especiales. Las características clínicas de esta patología se observan ya en niños muy jóvenes, en la gran mayoría de los casos menores de 5 años de edad. Esta es una patología que puede llevar al óbito, pues revela un compromiso cardíaco importante. Hay señales y síntomas en la cavidad oral en la fase aguda de la enferme...

  19. Atypical leg symptoms: does routine measurement of the ankle brachial pressure index (ABPI) in primary care benefit patients?

    OpenAIRE

    Oesterling, Christine; Kalia, Amun; Chetcuti, Thomas; Walker, Steven

    2015-01-01

    Abstract Background : Managing patients with atypical leg symptoms in primary care can be problematic. Determining the ankle brachial pressure index (ABPI) may be readily performed to help diagnose peripheral arterial disease, but is often omitted where signs and symptoms are unclear. Question : Does routine measurement of ABPI in patients with atypical leg symptoms aid management increase satisfaction and safely reduce hospital referral? Methodology : Patients with atypical leg symptoms but ...

  20. Segmental Neurofibromatosis: Atypical Localisation

    Directory of Open Access Journals (Sweden)

    Filiz Topaloğlu Demir

    2015-06-01

    Full Text Available Neurofibromatosis (NF is a genetic disease leading pathological findings in skin, soft tissue, bone and nervous system by affecting neural crest cells. Due to its heterogeneity neurofibromatosis was divided into eight different subgroups (NF-I NF-VIII by Riccardi. Segmental neurofibromatosis (NF type V is characterized by cutaneous neurofibromas and Café-au-lait spots limited with a segment of dermatome. Here we report this case with numerous, painless cutaneous nodules showing extension from the shoulder to the dorsal aspect of the right hand, since it a rare case.

  1. Value of gadoxetic acid-enhanced and diffusion-weighted MR imaging in evaluation of hepatocellular carcinomas with atypical enhancement pattern on contrast-enhanced multiphasic MDCT in patients with chronic liver disease

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Su [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul (Korea, Republic of); Kim, Seong Hyun, E-mail: kshyun@skku.edu [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul (Korea, Republic of); Kang, Tae Wook; Song, Kyoung Doo; Choi, Dongil [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul (Korea, Republic of); Park, Cheol Keun [Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul 135-710 (Korea, Republic of)

    2015-04-15

    images (80/82, 97.6%). Thirty-eight HCCs (38/82, 46.3%) showed typical HCC enhancement pattern on dynamic MR images. There were no significant differences in the frequency and trend of signal intensity on T2WI, HBP images, DW images, and histopathologic grades with regard to the four CT density patterns (p < 0.05). No significant difference in mean ADC values between groups was identified (p < 0.05). Conclusion: Gadoxetic acid-enhanced and DW MR imaging can help diagnose HCCs with atypical enhancement patterns on multiphasic CT in patients with chronic liver disease.

  2. Value of gadoxetic acid-enhanced and diffusion-weighted MR imaging in evaluation of hepatocellular carcinomas with atypical enhancement pattern on contrast-enhanced multiphasic MDCT in patients with chronic liver disease

    International Nuclear Information System (INIS)

    (80/82, 97.6%). Thirty-eight HCCs (38/82, 46.3%) showed typical HCC enhancement pattern on dynamic MR images. There were no significant differences in the frequency and trend of signal intensity on T2WI, HBP images, DW images, and histopathologic grades with regard to the four CT density patterns (p < 0.05). No significant difference in mean ADC values between groups was identified (p < 0.05). Conclusion: Gadoxetic acid-enhanced and DW MR imaging can help diagnose HCCs with atypical enhancement patterns on multiphasic CT in patients with chronic liver disease

  3. 3项检测对诊断儿童感染性疾病的意义与价值%Clinical value of C-reactive protein,white blood cell and atypical lymphocytes in diagnosis of children with infectious dis-eases

    Institute of Scientific and Technical Information of China (English)

    李汴霞

    2013-01-01

    Objective To explore the clinical value of C-reactive protein(CRP) ,white blood cell(WBC) and a-typical lymphocytes in the diagnosis of pediatric infectious diseases .Methods Forty cases with bacterial infections were selected as group A ,40 cases with viral infection as group B ,40 healthy children in the same period as the group C ,then observed their CRP ,WBC ,and atypical lymphocytes situation .Results CRP ,WBC of children in group A were significant higher than the other two groups ;positive detection rate of CRP and WBC were significant higher than that of atypical lymphocytes (P<0 .05) .Atypical cells of group B was significant higher than the other two groups(P<0 .05) .Conclusion It is difficult to diagnose infectious diseases in children according to the pure elevated WBC .Is is important to combine the detection of CRP and atypical lymphocytes for the diagnosis and treatment of in-fectious diseases in children ,which is worth of generalizing .%目的:探讨C-反应蛋白(CRP)、白细胞(WBC)及异型淋巴细胞对诊断儿童感染性疾病的意义与价值。方法选择开封市第二人民医院儿科病房40例细菌性感染患者作为A组,病毒性感染40例患者作为B组,选择同期40例健康体检儿童作为C组,观察3组CRP、WBC及异型淋巴细胞情况。结果 A组患儿CRP、WBC明显高于B、C两组;CRP及WBC阳性检出率明显高于异型淋巴细胞的阳性率,差异均有统计学意义(P<0.05)。B组异型细胞明显高于 A、C两组,异型淋巴细胞阳性检出率明显高于 CRP和 WBC ,差异均有统计学意义( P<0.05)。结论单纯WBC升高可能难以诊断儿童感染性疾病,结合CRP和异型淋巴细胞对于儿童感染性疾病的诊治具有一定指导意义,值得临床推荐使用。

  4. Atypical fractures, a biased perspective.

    Science.gov (United States)

    Aspenberg, Per

    2016-01-01

    When stress fractures started to show up in the femurs of elderly ladies, it was soon evident that bisphosphonate use lay behind, and the absolute risk increase due to bisphosphonate use was reasonably well estimated already in 2008. Thereafter followed a period of confusion: the term atypical fracture was introduced, with a definition so vague that the true stress fractures tended to disappear in a cloud of ambiguity. This cast doubt on the association with bisphosphonates. The association was then re-established by large epidemiological studies based on radiographic adjudication. Atypical fractures are largely caused by bisphosphonates. With a correct indication, bisphosphonates prevent many more fractures than they cause, at least during the first years of use. With an incorrect indication they are likely to cause more harm than good. PMID:26768286

  5. Atypical eating disorders: a review

    OpenAIRE

    Garcia, Frederico

    2011-01-01

    Frederico Duarte Garcia1, Héloïse Délavenne2, Pierre Déchelotte11Nutrition and Digestive System Research Group (EA 4311) and Nutrition Unit, Rouen Institute of Medical Research and Innovation, Federative Institute for Peptide Research (IFRMP 23), Rouen University and University Hospital, Rouen, France; 2Department of Addictology of the Rouen University Hospital, Rouen University, Rouen, FranceIntroduction: Atypical eating disorders (AEDs), also known ...

  6. Case Report: Atypical Cornelia de Lange Syndrome.

    Science.gov (United States)

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  7. Thymic carcinoma presenting as atypical chest pain.

    Science.gov (United States)

    Siddiqui, Sadiq; Connelly, Tara; Keita, Luther; Blazkova, Sylvie; Veerasingam, Dave

    2015-01-01

    A 58-year-old woman with a 2-month history of atypical chest pain was referred to the chest pain clinic by the general practitioner. Exercise stress test was positive and subsequent coronary angiogram revealed significant triple vessel disease with left ventricular impairment requiring a coronary artery bypass graft (CABG). The patient had a chest X-ray as part of the preoperative work up. Chest X-ray revealed a large anterior mediastinal mass. Subsequent thorax CT revealed a 7.2 cm anterior mediastinal mass. CT-guided biopsy of the mass revealed the diagnosis of a poorly differentiated thymic basaloid carcinoma. The patient was successfully treated with concomitant surgery involving complete resection of the mass and a CABG procedure. PMID:26607199

  8. Damage spreading on the 3-12 lattice with competing Glauber and Kawasaki dynamics

    Indian Academy of Sciences (India)

    Z Z Guo; Xiao-Wei Wu; Chun-An Wang

    2006-06-01

    The damage spreading of the Ising model on the 3-12 lattice with competing Glauber and Kawasaki dynamics is studied. The difference between the two kinds of nearest-neighboring spin interactions (interaction between two 12-gons, or interaction between a 12-gon and a triangle) are considered in the Hamiltonian. It is shown that the ratio of the interaction strength between the two kinds of interactions plays an important role in determining the critical temperature d of phase transition from frozen to chaotic. Two methods are used to introduce the bond dilution on the Ising model on the 3-12 lattice: regular and random. The maximum of the average damage spreading $\\langle D \\rangle_{\\text{max}}$ can approach values lower than 0.5 in both cases and the reason can be attributed to the `survivors' among the spins. We have also, for the first time, presented the phase diagram of the mixed G–K dynamics in the 3-12 lattice which shows what happens when going from pure Glauber to pure Kawasaki.

  9. Occurrence and significance of atypical Aeromonas salmonicida in non-salmonid and salmonid fish species : A review

    DEFF Research Database (Denmark)

    Wiklund, T.; Dalsgaard, Inger

    1998-01-01

    , non-salmonids as well as salmonids, inhabiting fresh water, brackish water and marine environments in northern and central Europe, South Africa, North America, Japan and Australia. In non-salmonid fish species, infections with atypical strains often manifest themselves as superficial skin ulcerations...... information is available about the ecology, spread and survival of atypical strains in water. The commonly used therapeutic methods for the control of diseases in farmed fish caused by atypical A. salmonicida are generally effective against the atypical strains. Resistance to different antibiotics and...

  10. The natural atypical scrapie phenotype is preserved on experimental transmission and sub-passage in PRNP homologous sheep

    Directory of Open Access Journals (Sweden)

    Bellworthy Susan J

    2010-03-01

    Full Text Available Abstract Background Atypical scrapie was first identified in Norwegian sheep in 1998 and has subsequently been identified in many countries. Retrospective studies have identified cases predating the initial identification of this form of scrapie, and epidemiological studies have indicated that it does not conform to the behaviour of an infectious disease, giving rise to the hypothesis that it represents spontaneous disease. However, atypical scrapie isolates have been shown to be infectious experimentally, through intracerebral inoculation in transgenic mice and sheep. The first successful challenge of a sheep with 'field' atypical scrapie from an homologous donor sheep was reported in 2007. Results This study demonstrates that atypical scrapie has distinct clinical, pathological and biochemical characteristics which are maintained on transmission and sub-passage, and which are distinct from other strains of transmissible spongiform encephalopathies in the same host genotype. Conclusions Atypical scrapie is consistently transmissible within AHQ homozygous sheep, and the disease phenotype is preserved on sub-passage.

  11. Early Freezing of Gait: Atypical versus Typical Parkinson Disorders.

    Science.gov (United States)

    Lieberman, Abraham; Deep, Aman; Dhall, Rohit; Tran, An; Liu, Ming-Jai

    2015-01-01

    In 18 months, 850 patients were referred to Muhammad Ali Parkinson Center (MAPC). Among them, 810 patients had typical Parkinson disease (PD) and 212 had PD for ≤5 years. Among the 212 patients with early PD, 27 (12.7%) had freezing of gait (FOG). Forty of the 850 had atypical parkinsonism. Among these 40 patients, all of whom had symptoms for ≤5 years, 12 (30.0%) had FOG. FOG improved with levodopa in 21/27 patients with typical PD but did not improve in the 12 patients with atypical parkinsonism. FOG was associated with falls in both groups of patients. We believe that FOG unresponsive to levodopa in typical PD resembles FOG in atypical parkinsonism. We thus compared the 6 typical PD patients with FOG unresponsive to levodopa plus the 12 patients with atypical parkinsonism with the 21 patients with typical PD responsive to levodopa. We compared them by tests of locomotion and postural stability. Among the patients with FOG unresponsive to levodopa, postural stability was more impaired than locomotion. This finding leads us to believe that, in these patients, postural stability, not locomotion, is the principal problem underlying FOG. PMID:25785228

  12. Evolving A-Type Artificial Neural Networks

    CERN Document Server

    Orr, Ewan

    2011-01-01

    We investigate Turing's notion of an A-type artificial neural network. We study a refinement of Turing's original idea, motivated by work of Teuscher, Bull, Preen and Copeland. Our A-types can process binary data by accepting and outputting sequences of binary vectors; hence we can associate a function to an A-type, and we say the A-type {\\em represents} the function. There are two modes of data processing: clamped and sequential. We describe an evolutionary algorithm, involving graph-theoretic manipulations of A-types, which searches for A-types representing a given function. The algorithm uses both mutation and crossover operators. We implemented the algorithm and applied it to three benchmark tasks. We found that the algorithm performed much better than a random search. For two out of the three tasks, the algorithm with crossover performed better than a mutation-only version.

  13. Atypical Papular Purpuric Eruption Induced by Parvovirus B19 Infection

    OpenAIRE

    Şeyma Kayalı; Nilden Tuygun; Halise Akça; Can Demir Karacan

    2016-01-01

    Parvovirus B19 infection’s most common dermatological manifestation is erythema infectiosum as also known the fifth disease. Rare clinical presentations of parvovirus B 19 like papulopurpuric gloves and socks syndrome and acropetechial syndrome has also been described re­cently. This study presents report of a case with atypical feature and distribution of rash due to parvovirus B19 in­fection. We want to emphasize that pediatricians should consider parvovirus B19 infection of any patient who...

  14. Atypical Chronic Myeloid Leukaemia with Trisomy 13: a Case Report

    Institute of Scientific and Technical Information of China (English)

    Guo-yu Hu; Chao-hui Yuan; Kui Tan; Zhen-zhen Chen

    2011-01-01

    ATYPICAL chronic myeloid leukaemia (aCML),which shows both myeloproliferative and myeIodysplastic features,is a type of myeloproliferative/myelodysplastic disease as defined by the World Health Organisation (WHO) classification of the myeloid neoplasms.1 Because of the presence of neutrophilic leukocytosis,aCML may resemble chronic myeIogenous leukemia (CML).However,in contrast with CML,aCML does not have the Philadelphia chromosome or the bcr/abl fusion gene.

  15. DENGUE WITH ATYPICAL MANIFESTATIONS AND WHO CLASSIFICATION

    Directory of Open Access Journals (Sweden)

    Jayant Mahadeorao

    2015-09-01

    Full Text Available Dengue fever and dengue haemorrhagic fever are important arboviral diseases. Dengue virus belongs to family Flaviviridae , has four serotypes that spread by the bite of infected Aedes mosquitoes . Dengue epidemics can have a significant economic and health t oll. Worldwide, an estimated 3.6 billion people are at risk of infection with about 50 - 100 million new cases each year Illness produced by any of the four dengue virus serotypes varies from mild asymptomatic illness to severe fatal dengue haemorrhagic fe ver/dengue shock syndrome (DHF/DSS. During the early febrile stage clinicians cannot predict which patients will progress to severe disease. Atypical manifestations were reported are associated with high risk of mortality. The existing WHO dengue classific ation scheme and case definitions have some drawbacks. A global strategy to reduce the disease burden using integrated vector management in conjunction with early and accurate diagnosis has been advocated. Antiviral drugs and vaccines that are currently un der development could also make an important contribution to dengue control in the future

  16. A case of atypical progressive supranuclear palsy

    Directory of Open Access Journals (Sweden)

    Spaccavento S

    2013-12-01

    Full Text Available Simona Spaccavento, Marina Del Prete, Angela Craca, Anna Loverre IRCCS Salvatore Maugeri Foundation, Cassano Murge, Bari, Italy Background: Progressive supranuclear palsy (PSP is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS and aphasia. Aim: We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. Methods: A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. Results: Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20, low memory test scores (story recall, Rey’s 15-word Immediate and Delayed Recall, and poor phonemic and semantic fluency. The patient’s language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. Conclusion: Our case highlights the heterogeneity of the clinical features in

  17. Atypical parkinsonism: diagnosis and treatment.

    Science.gov (United States)

    Stamelou, Maria; Bhatia, Kailash P

    2015-02-01

    Atypical parkinsonism comprises typically progressive supranuclear palsy, corticobasal degeneration, and mutilple system atrophy, which are distinct pathologic entities; despite ongoing research, their cause and pathophysiology are still unknown, and there are no biomarkers or effective treatments available. The expanding phenotypic spectrum of these disorders as well as the expanding pathologic spectrum of their classic phenotypes makes the early differential diagnosis challenging for the clinician. Here, clinical features and investigations that may help to diagnose these conditions and the existing limited treatment options are discussed. PMID:25432722

  18. Cutaneous and Subcutaneous Metastases From Atypical Laryngeal Carcinoids

    Science.gov (United States)

    Wang, Kui-Rong; Jia, Yuan-Jing; Zhou, Shui-Hong; Wang, Qin-Ying; Bao, Yang-Yang; Feng, Zhi-Ying; Yao, Hong-Tian; Fan, Jun

    2016-01-01

    Abstract The incidence of cutaneous and subcutaneous metastases from atypical laryngeal carcinoids is approximately 20%. However, the pathogenesis and natural history of, and prognostic factors for, the condition remain poorly understood. We reported a 54-year-old female presented with cutaneous and subcutaneous metastases from atypical laryngeal carcinoid. Laryngoscopy revealed a 0.5 × 1.5-cm reddish mass on the laryngeal surface of the epiglottis. Under general anesthesia, a biopsy sample was obtained via suspension laryngoscopy. Routine pathology revealed atypical laryngeal carcinoid. Immunohistochemical staining of the sections of primary tumor was positive for cytokeratin, chromogranin A, synaptophysin, hypoxia-inducible factor-1α, P53, and CD56. GLUT-1, p-Akt, and PI3K were negative. The Ki-67 index was 15%. Supraglottic laryngectomy and selective right-neck dissection were performed. After 6 months, the patient complained of pain in the right wall of the chest; multiple cutaneous and subcutaneous nodules were evident at that site and in the abdomen. An abdominal nodule was biopsied and pathology revealed that the atypical metastatic carcinoid had metastasized to both cutaneous and subcutaneous areas of the abdomen. Chemotherapy was then prescribed. Currently, the intrathecal drug delivery system remains in place. No local recurrence has been detected. Furthermore, we systematically reviewed clinical manifestations of the disease, pathogenesis, prognostic factors, and treatment. The metastasis rate (cutaneous and subcutaneous) was approximately 12.2%. Thirty patients (62.5%) with cutaneous and subcutaneous metastases exhibited contemporaneous lymph node invasion. The 3-, 5-, and 10-year survival rates were 44.0%, 22.0%, and 13.0%, respectively. The prognosis of patients with atypical laryngeal carcinoids was poor. Relevant prognostic factors included the level of p53, human papilloma virus status, certain hypoxic markers, and distant metastasis. No

  19. Atypical Manifestation of Vestibular Schwannoma

    Directory of Open Access Journals (Sweden)

    Webster, Guilherme

    2013-09-01

    Full Text Available Introduction: Vestibular schwannoma (also known as acoustic neuroma is a benign tumor whose cells are derived from Schwann sheaths, which commonly occurs from the vestibular portion of the eighth cranial nerve. Furthermore, vestibular schwannomas account for ∼8% of intracranial tumors in adults and 80 to 90% of tumors of the cerebellopontine angle. Its symptoms are varied, but what stands out most is a unilateral sensorineural hearing loss, with a low index of speech recognition. Objective: Describe an atypical manifestation of vestibular schwannoma. Case Report: The 46-year-old woman had vertigo and binaural hearing loss and fullness, with ear, nose, and throat examination suggestive of cochlear injury. After 6 months, the patient developed worsening of symptoms and onset of right unilateral tinnitus. In further exams the signs of cochlear damage remained, except for the vestibular test (hyporeflexia. Magnetic resonance imaging showed an expansive lesion in the right cerebellopontine angle. Discussion: This report warns about the atypical manifestations of vestibular schwannoma, which must always be remembered in investigating and diagnosing hearing loss.

  20. Atypical extragonadal germ cell tumors

    Directory of Open Access Journals (Sweden)

    Mainak Deb

    2012-01-01

    Full Text Available Aim: To review the experience with the diagnosis and management of extragonadal germ cell tumors (GCT with a subset analysis of those with atypical features. Materials and Methods: A retrospective chart review of patients of extragonadal germ cell tumors between 2000 and 2010 was carried out. Results: Fifteen children aged 7 days to 15 years (median, 1.5 years were included. Three had an antenatal diagnosis (one sacrococcygeal, one retrobulbar, one retroperitoneal tumor and were operated in the neonatal period. The locations were distributed between the retrobulbar area (1, anterior neck-thyroid gland (1, mediastinum (4, abdominothoracic extending through the esophageal hiatus (1, retroperitoneal (4 and sacrococcygeal (4. On histological examination, five harbored immature elements while two were malignant; the latter children received postexcision adjuvant chemotherapy. There was no mortality. At a median follow-up of 4.5 years (6 months to 8 years, 14/15 have had an event-free survival. One immature mediastinal teratoma that recurred locally 7.5 years after the initial operation was excised and adjuvant chemotherapy instituted. Conclusions: Extragonadal GCTs in children are uncommon and occasionally present with atypical clinical, radiological and histological features resulting in diagnostic and therapeutic dilemmas.

  1. CT diagnosis of appendicitis with atypical clinical features

    International Nuclear Information System (INIS)

    Objective: To investigate the value of CT in diagnosis of appendicitis with atypical clinical features. Methods: CT manifestations of 20 cases of appendicitis, which were not initially considered on clinical presentation, confirmed surgically and pathologically were retrospectively analyzed. Results: The CT findings of appendicitis included: (1) The appendix enlarged in diameter, with wall thickening and enhancement after administration of IV contrast material (7 cases), presence of appendicolith in 4 cases. (2) pericecal inflammation (14 cases). (3) Localized abscess of right lower quadrant (11 cases), calcified appendicolith seen in 2 cases. CT misdiagnosed 2 cases as tumour of ascending colon, and another 2 cases as pelvic inflammatory disease. Conclusions: The clinical diagnosis of appendicitis is very difficult when patients present with atypical signs and symptoms, but in most cases, the correct diagnosis of appendicitis could be made on the basis of CT findings

  2. [The atypical course of syphilis in HIV infection].

    Science.gov (United States)

    Mahrle, G; Rasokat, H; Kurz, K; Steigleder, G K

    1989-05-15

    We report on 3 HIV patients showing atypical courses of syphilis. Both the history and serology of the first patient proved a recent re-infection with T. pallidum, whereas the histopathological findings corresponded to an advanced stage of the disease (S II-III). The second patient showed the clinical picture of syphilis maligna with slowly converting and slightly positive serological reactions. The third patient had a refractory syphilis and an early relapse. Our observations suggest that syphilis might take an unusual course in HIV patients. Considering our total HIV clientèle (800 patients greater than or equal to WR 2) the frequency of these atypical cases must be rated very low (0.38%). PMID:2741530

  3. On the convergence of the Ohta-Kawasaki Equation to motion by nonlocal Mullins-Sekerka Law

    CERN Document Server

    Le, Nam Q

    2009-01-01

    In this paper, we establish the convergence of the Ohta-Kawasaki equation to motion by nonlocal Mullins-Sekerka law on any smooth domain in space dimensions $N\\leq 3$. These equations arise in modeling microphase separation in diblock copolymers. The only assumptions that guarantee our convergence result are $(i)$ well-preparedness of the initial data and $(ii)$ smoothness of the limiting interface. Our method makes use of the "Gamma-convergence" of gradient flows scheme initiated by Sandier and Serfaty and the constancy of multiplicity of the limiting interface due to its smoothness. For the case of radially symmetric initial data without well-preparedness, we give a new and short proof of the result of M. Henry for all space dimensions. Finally, we establish transport estimates for solutions of the Ohta-Kawasaki equation characterizing their transport mechanism.

  4. Atypical extraspinal musculoskeletal tuberculosis in immunocompetent patients, a reivew. Part I: atypical osteoarticular tuberculosis and tuberculous osteomyelitis

    International Nuclear Information System (INIS)

    With the resurgence of pulmonary tuberculosis and musculoskeletal tuberculosis in North America and Europe over the last 20 years, the typical pattern of extraspinal musculoskeletal tuberculosis has been changing; presentation of the disease often mimics that of neoplasia. However, certain radiographic features may offer some clues to the more benign nature of the process and its inflammatory and infectious nature. Although the diagnosis of extraspinal musculoskeletal tuberculosis depends largely on clinical context, it is the radiologist's role to guide the imaging workup to initiate the specific treatment as early as possible. As in classic extraspinal tuberculosis, delayed diagnosis may lead to deformity of the involved joint and permanent disability. This review considers atypical osteoarticular tuberculosis and tuberculous osteomyelitis. We discuss examples of these atypical presentations. All patients were permanent residents in Europe and North America, and all were immunocompetent. (author)

  5. Atypical presentation of mucopolysaccharidosis type IVA.

    Science.gov (United States)

    Rush, Eric T

    2016-09-01

    A 14 year old patient with short stature, type I diabetes, and cataracts was referred for evaluation of avascular necrosis of the femoral head. Radiography was suggestive of spondyloepiphyseal dysplasia with decreased bone mineral density for age. Targeted molecular and biochemical testing were normal in this patient. Whole exome sequencing was performed and showed compound heterozygosity for previously reported pathogenic GALNS variants which were diagnostic of mucopolysaccharidosis, type IVA (Morquio A). While this case describes neither a novel condition nor a new mutation, it does illustrate three important points in the diagnosis of patients with atypical forms of MPS IVA. First, that in many instances urine glycosaminoglycan analysis is not sufficient to rule out MPS IVA as a potential diagnosis. Patients in whom biochemical screening is advised should have measurement of leukocyte enzymatic activity. Second, that in patients with radiographic evidence of spondyloepiphyseal dysplasia with additional features or with normal targeted testing, MPS IVA should remain in the differential diagnosis. Third, that whole exome sequencing represents a viable diagnostic platform for evaluation of patients with unknown skeletal or metabolic disease. PMID:27331011

  6. Atypical Findings of Guillain-Barré Syndrome in Children

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2012-10-01

    Full Text Available ObjectiveGuillain-Barre syndrome (GBS is an immune-mediated polyneuropathy that occurs mostly after prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS.Materials & MethodsThirty three patients (21/63.6% males and 12/36.4% females with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012.ResultsThe mean age was 5.4 years (range, 1.5-10.5.Twenty one patients (87.9 % had previous history of infections. Eight patients (24.2% admitted with atypical symptoms like upper limb weakness (3%, ptosis (3%, neck stiffness (3%, inability to stand (proximal weakness (9.1%, headache (3% and dysphagia (3%.According to disease process, weakness was ascending in 26 (78.8%, descending in 5 (15.2% and static in 2 (6.1% patients. Cranial nerve involvement was found in 8(24.3% children, most commonly as facial palsy in 3 (9.1%.ConclusionIn this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness, headache and dysphagia

  7. Epithelioid Schwannomas: An Analysis of 58 Cases Including Atypical Variants.

    Science.gov (United States)

    Hart, Jesse; Gardner, Jerad M; Edgar, Mark; Weiss, Sharon W

    2016-05-01

    The histologic features and outcome of 58 cases of epithelioid schwannoma were studied to determine the significance of atypical histologic features. Cases were retrieved from personal consultation files from 1999 to 2013. Patients (31 male and 26 female patients) ranged in age from 14 to 80 years (median, 38 y). Two patients had schwannomatosis 1. Tumors developed in the dermis/subcutis (n=56) or muscle (n=2) of the upper extremity (34.5%), lower extremity (34.5%), thorax/abdomen/back (18%), and less common anatomic locations including the scalp, neck, lip, and breast. They ranged in size from 0.25 to 4.5 cm (median, 2.0 cm). Typically circumscribed and surrounded by a perineurium, they comprised single or small groups of epithelioid schwann cells with a moderate amphophilic cytoplasm and occasional nuclear pseudoinclusions. Stroma varied from myxoid to hyalinized, often with thick-walled vessels (55 cases). Mitotic rate ranged from 0 to 9 mitoses/10 high-power field (HPF) (2.37 mm) in the most active areas (mean, 2 to 3 mitoses/10 HPFs). Thirteen cases (22%) were "atypical," defined by a high mitotic rate (≥3 mitoses per 10 HPFs) and nuclear size variation (≥3:1). All (56/56) expressed S100 protein; type IV collagen invested groups or individual cells (16/17). Melanoma markers were negative, except for melan A (1 case). Follow-up in 39 patients (median, 78 mo; range, 6 to 174 mo) indicated that 31 (79%) were alive without disease (including 9/13 atypical cases; median, 78 mo), 7 (18%) were alive with unknown status, and 1 patient had died of unrelated causes. One tumor recurred, but none metastasized. Epithelioid schwannomas, even those with atypical features, are benign and do not constitute a histologic continuum with epithelioid malignant peripheral nerve sheath tumors, which typically occur in deep soft tissues and have more anaplastic features. PMID:26752543

  8. Measurements of Coronary Artery Aneurysms Due to Kawasaki Disease by Dual-Source Computed Tomography (DSCT).

    Science.gov (United States)

    Tsujii, Nobuyuki; Tsuda, Etsuko; Kanzaki, Suzu; Kurosaki, Kenichi

    2016-03-01

    Diameters of coronary artery aneurysms (CAAs) complicating acute phase KD can strongly predict the long-term prognosis of coronary artery lesions (CAL). Recently, computed tomographic angiography (CTA) has been used to detect CAL, and the purpose of this study was to determine whether coronary artery diameters measurements by CTA using dual-source computed tomography (DSCT) can be used instead of coronary angiogram (CAG) measurements. Twenty-five patients (22 males and three females) with CAL due to KD, who had undergone both CTA and CAG within one year, were retrospectively evaluated between 2007 and 2013. A prospective electrocardiogram-triggered CTA was performed on a DSCT (SOMATOM(®) Definition, Siemens Healthcare, Germany). Two pediatric cardiologists independently measured the diameters of CAAs twice in each maximum intensity projection (MIP), curved multiplaner reconstruction (MPR) and CAG. We measured 161 segments in total (segment 1-3, 5-7, 11, 13). Diagnostic accuracy was expressed as κ coefficient. A Bland-Altman analysis was also used to assess the intra-observer, inter-observer and inter-modality agreement. The diagnostic quality of CTA was excellent (κ = 0.93). Excellent inter-observer agreement for the diameters of CAAs was obtained for MIP, MPR and CAG and for the intra-observer agreement. The inter-modality agreement was also excellent in measurements of CAA (MPR-CAG: y = 0.9x + 0.40, r = 0.97, p < 0.0001 MIP-CAG: y = x + 0.1, r = 0.94, p < 0.0001). These values in normal coronary arteries were also obtained. We found a significant correlation between CTA and CAG in measuring the coronary arteries. We conclude that measuring coronary artery diameters by CTA is reliable and useful. PMID:26515298

  9. Atypical imaging appearances of intracranial meningiomas

    Energy Technology Data Exchange (ETDEWEB)

    O' Leary, S. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Adams, W.M. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Parrish, R.W. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom); Mukonoweshuro, W. [Radiology Department, Derriford Hospital, Plymouth (United Kingdom)]. E-mail: William.mukonoweshuro@phnt.swest.nhs.uk

    2007-01-15

    Meningiomas are the commonest primary, non-glial intracranial tumours. The diagnosis is often correctly predicted from characteristic imaging appearances. This paper presents some examples of atypical imaging appearances that may cause diagnostic confusion.

  10. Surgical Options for Atypical Facial Pain Syndromes.

    Science.gov (United States)

    Rahimpour, Shervin; Lad, Shivanand P

    2016-07-01

    Atypical neuropathic facial pain is a syndrome of intractable and unremitting facial pain that is secondary to nociceptive signaling in the trigeminal system. These syndromes are often recalcitrant to pharmacotherapy and other common interventions, including microvascular decompression and percutaneous procedures. Herein, the authors present two other viable approaches (nucleus caudalis dorsal root entry zone lesioning and motor cortex stimulation), their indications, and finally a possible treatment algorithm to consider when assessing patients with atypical facial pain. PMID:27325003

  11. Atypical Papular Purpuric Eruption Induced by Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Şeyma Kayalı

    2016-03-01

    Full Text Available Parvovirus B19 infection’s most common dermatological manifestation is erythema infectiosum as also known the fifth disease. Rare clinical presentations of parvovirus B 19 like papulopurpuric gloves and socks syndrome and acropetechial syndrome has also been described re­cently. This study presents report of a case with atypical feature and distribution of rash due to parvovirus B19 in­fection. We want to emphasize that pediatricians should consider parvovirus B19 infection of any patient who has leukopenia presenting with petechial/purpuric eruption of an unclear origin.

  12. Dengue Fever Presenting Atypically with Viral Conjunctivitis and Subacute Thyroiditis.

    Science.gov (United States)

    Sheraz, Faizan; Tahir, Hassan; Saqi, Jannavi; Daruwalla, Vistasp

    2016-06-01

    The majority of dengue viral infections are asymptomatic, though symptoms may range from self-limiting febrile illness to life threatening hemorrhagic manifestations. As the burden of disease is dramatically rising in recent years, more patients with atypical presentations and rare complications are increasingly reported. Dengue virus may rarely involve different organ systems including CNS, liver, and heart. However, involvement of eye and thyroid is extremely rare. We present a case of 32-year old patient who presented with conjunctivitis and subacute thyroiditis and was found to have dengue viral infection as the cause of these conditions. PMID:27376214

  13. Synchronous atypical fibroxanthoma and Bowen’s disease of the head and neck in an otherwise normal patient – a case report and review of literature [Simultanes Auftreten eines atypischen Fibroxanthoms und Plattenepithelkarzinoms im Kopf-Hals-Bereich – Fallbericht und Literaturübersicht

    Directory of Open Access Journals (Sweden)

    Eweida, Ahmad

    2012-03-01

    Full Text Available [english] Although both atypical fibroxanthoma and squamous cell carcinoma arise on top of sun-damaged skin of the elderly, there is no evidence in literature reporting a synchronous presentation of primary lesions of both malignancies in the head and neck regions. We report a case of synchronous atypical fibroxanthoma and squamous cell carcinoma in situ (Bowen’s disease of the head and neck in an otherwise normal old Caucasian male patient. We reviewed the literature for cases of head and neck atypical fibroxanthoma in association with other skin malignancies with an overview over the risk factors and modalities of treatment. We would like to raise the awareness for the concept of multiple synchronous primary malignant lesions and the importance to anticipate and differentiate between different pathologies in order to provide adequate investigations and treatment for the patient. [german] Obwohl sowohl das atypische Fibroxanthom der Haut als auch das Plattenepithelkarzinom bei sonnengeschädigter Haut älterer Menschen gehäuft vorkommen, gibt es in der Literatur keine Beschreibung eines simultanen Auftretens beider Malignome als Primärläsionen im Kopf-Hals-Bereich. Aus diesem Grund möchten wir über einen Fall berichten, bei dem sowohl ein atypisches Fibroxanthom als auch ein Morbus Bowen (als in situ Variante des Plattenepithelkarzinoms im Kopf-Hals-Bereich eines sonst gesunden 74-jährigen männlichen Patienten aufgetreten ist. Auf Grundlage der bestehenden Publikationen von Fällen mit atypischen Fibroxanthomen in Assoziation mit anderen Hautmalignomen, verglichen wir diese mit dem vorliegenden Fall, insbesondere in Hinblick auf die Risikofaktoren und das empfohlene Behandlungsregime. Ein simultanes Auftreten von mehreren primären Hauttumoren verschiedener Entität ist in einigen Fällen möglich und sollte daher insbesondere bei älteren Menschen deutlich häufiger in die Beurteilung und Diagnosestellung mit eingeschlossen werden

  14. Clinical Presentation of Atypical Genital Herpes

    Institute of Scientific and Technical Information of China (English)

    李俊杰; 梁沛杨; 罗北京

    2002-01-01

    Objective: To make a clinical analysis on the basis of 36cases of atypical genital herpes (GH) patients. Methods: Thirty-six cases of atypical GH were diagnosedclinically, and their case histories, symptoms and signs wererecorded in detail and followed up. Polymerase chain reaction(PCR) was adopted for testing HSV2-DNA with cotton-tippedswabs. Enzyme-linked immuno sorbent assay (ELISA) forserum anti-HSV2-IgM was done to establish a definfiivediagnosis. Other diagnoses were excluded at the same time bytesting for related pathogens including fungi, Chlamydia,Mycoplasma, Treponema pallidum, gonococci, Trichomonas,etc. Results: The main clinical manifestations of atypical GHwere: (1) small genital ulcers; (2) inflammation of urethralmeatus; (3) nonspecific genital erythema; (4) papuloid noduleson the glands; (5) nonspecific vaginitis. Twenty-three cases(64%) tested by PCR were HSV2-DNA sera-positive, and 36cases (100 %) anti-HSV2-IgM sera-positive by ELISA. Conclusion: atypical HSV is difficult to be diagnosed. Butthe combination of PCR and ELIAS will be helpful to thediagnosis of atypical HSV.

  15. Isolation and characterization of an atypical Listeria monocytogenes associated with a canine urinary tract infection

    Science.gov (United States)

    Listeria monocytogenes, a well described neurologic, gastrointestinal, and potential abortion-causing agent in humans, is rarely associated with disease in companion animals. A case of urinary tract infection associated with an atypical, weakly hemolytic L. monocytogenes strain is described here in ...

  16. Recovery of atypical Aeromonas salmonicida from ulcerated fish from the Baltic Sea

    DEFF Research Database (Denmark)

    Wiklund, T.; Tabolina, I; Bezgachina, T.V.

    1999-01-01

    Ulcerated fish of six different species were collected during the BMB/ICES Sea-going Workshop "Fish Diseases and Parasites in the Baltic Sea", 25 November to 8 December 1994, and examined for bacteriological infections. Atypical Aeromonas salmonicida strains were isolated from the majority of the...

  17. Association between LEP and LEPR gene polymorphisms and dyslipidemia in patients using atypical antipsychotic medication

    NARCIS (Netherlands)

    Gregoor, Jochem G.; van der Weide, Jan; Loovers, Harriet M.; van Megen, Harold J.; Egberts, Toine C.; Heerdink, Eibert R.

    2010-01-01

    Background Treatment with atypical antipsychotic agents is often complicated by dyslipidemia, which is a risk factor for cardiovascular disease. Objectives To determine whether the LEPR Q223R, the LEP -2548G/A, and the HTR2C -759C/T polymorphisms are associated with dyslipidemia in patients using at

  18. Uremic Encephalopathy with Atypical Magnetic Resonance Features on Diffusion-Weighted Images

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Eu Gene; Jeon, Se Jeong; Choi, See Sung [Dept. of Radiology, Wonkwang University School of Medicine and Hospital, Iksan (Korea, Republic of)

    2012-11-15

    Uremic encephalopathy is a well-known disease with typical MR findings including bilateral vasogenic or cytotoxic edema at the cerebral cortex or basal ganglia. Involvement of the basal ganglia has been very rarely reported, typically occurring in uremic-diabetic patients. We recently treated a patient who had non-diabetic uremic encephalopathy with an atypical lesion distribution involving the supratentorial white matter, without cortical or basal ganglia involvement. To the best of our knowledge, this is only the second reported case of non-diabetic uremic encephalopathy with atypical MR findings.

  19. Use of Eculizumab in Atypical Hemolytic Uremic Syndrome, Complicating Systemic Lupus Erythematosus.

    Science.gov (United States)

    Bermea, Rene S; Sharma, Niharika; Cohen, Kenneth; Liarski, Vladimir M

    2016-09-01

    Atypical hemolytic uremic syndrome is characterized by the presence of thrombocytopenia, microangiopathic hemolytic anemia, and end-organ injury. In this report, we describe two patients with systemic lupus erythematosus who presented with findings compatible with atypical hemolytic uremic syndrome, complicated by acute kidney injury that was refractory to conventional therapies. Both patients exhibited a response to eculizumab, a monoclonal antibody to complement protein C5, with stabilization of their platelet count. On 1-year follow-up from their initial presentation, their hematologic disease remained in remission without recurrence. PMID:27556240

  20. Isolation of atypical enteropathogenic Escherichia coli from chicken and chicken-derived products.

    Science.gov (United States)

    Alonso, M Z; Sanz, M E; Irino, K; Krüger, A; Lucchesi, P M A; Padola, N L

    2016-04-01

    Atypical enteropathogenic Escherichia coli (EPEC) strains from chicken and chicken-derived products were isolated and characterised. The strains presented a wide variety of serotypes, some have been reported in other animal species (O2:H40, O5:H40) and in children with diarrhoea (O8:H-). Most of the strains carried intimin β. The results indicate that chicken and chicken products are important sources of atypical EPEC strains that could be associated with human disease, and highlight the need to improve hygiene practices in chicken slaughtering and meat handling. PMID:26810335

  1. The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.

    Science.gov (United States)

    Bhattacharjee, Arnab; Reuter, Stefanie; Trojnár, Eszter; Kolodziejczyk, Robert; Seeberger, Harald; Hyvärinen, Satu; Uzonyi, Barbara; Szilágyi, Ágnes; Prohászka, Zoltán; Goldman, Adrian; Józsi, Mihály; Jokiranta, T Sakari

    2015-04-10

    Atypical hemolytic uremic syndrome (aHUS) is characterized by complement attack against host cells due to mutations in complement proteins or autoantibodies against complement factor H (CFH). It is unknown why nearly all patients with autoimmune aHUS lack CFHR1 (CFH-related protein-1). These patients have autoantibodies against CFH domains 19 and 20 (CFH19-20), which are nearly identical to CFHR1 domains 4 and 5 (CFHR14-5). Here, binding site mapping of autoantibodies from 17 patients using mutant CFH19-20 constructs revealed an autoantibody epitope cluster within a loop on domain 20, next to the two buried residues that are different in CFH19-20 and CFHR14-5. The crystal structure of CFHR14-5 revealed a difference in conformation of the autoantigenic loop in the C-terminal domains of CFH and CFHR1, explaining the variation in binding of autoantibodies from some aHUS patients to CFH19-20 and CFHR14-5. The autoantigenic loop on CFH seems to be generally flexible, as its conformation in previously published structures of CFH19-20 bound to the microbial protein OspE and a sialic acid glycan is somewhat altered. Cumulatively, our data suggest that association of CFHR1 deficiency with autoimmune aHUS could be due to the structural difference between CFHR1 and the autoantigenic CFH epitope, suggesting a novel explanation for CFHR1 deficiency in the pathogenesis of autoimmune aHUS. PMID:25659429

  2. Typical Versus Atypical Anorexia Nervosa Among Adolescents: Clinical Characteristics and Implications for ICD-11.

    Science.gov (United States)

    Silén, Yasmina; Raevuori, Anu; Jüriloo, Elisabeth; Tainio, Veli-Matti; Marttunen, Mauri; Keski-Rahkonen, Anna

    2015-09-01

    There is scant research on the clinical utility of differentiating International Classification of Diseases (ICD) 10 diagnoses F50.0 anorexia nervosa (typical AN) and F50.1 atypical anorexia. We reviewed systematically records of 47 adolescents who fulfilled criteria for ICD-10 F50.0 (n = 34) or F50.1 (n = 13), assessing the impact of diagnostic subtype, comorbidity, background factors and treatment choices on recovery. Atypical AN patients were significantly older (p = 0.03), heavier (minimum body mass index 16.7 vs 15.1 kg/m(2) , p = 0.003) and less prone to comorbidities (38% vs 71%, p = 0.04) and had shorter, less intensive and less costly treatments than typical AN patients. The diagnosis of typical versus atypical AN was the sole significant predictor of treatment success: recovery from atypical AN was 4.3 times (95% confidence interval [1.1, 17.5]) as likely as recovery from typical AN. Overall, our findings indicate that a broader definition of AN may dilute the prognostic value of the diagnosis, and therefore, ICD-11 should retain its distinction between typical and atypical AN. PMID:26010207

  3. Lichen sclerosus: a potpourri of misdiagnosed cases based on atypical clinical presentations

    Directory of Open Access Journals (Sweden)

    Ventolini G

    2015-05-01

    Full Text Available Gary Ventolini, Ravi Patel, Robert Vasquez Texas Tech University Health Sciences Center Permian Basin, Odessa, TX, USA Objective: Lichen sclerosus (LS is a chronic progressive inflammatory autoimmune-induced disease that primarily affects the epidermis and dermis of the external genital-anal region. Intense and recalcitrant pruritus is the hallmark of LS. Physical exam reveals thinning, hyperkeratosis, and parchment-like appearance. However, the classic symptom and signs of LS may not always be present and patients may be asymptomatic for pruritus. Hence, we describe 15 misdiagnosed cases with atypical clinical presentations. We believe that the absence of pruritus contributed to their initial misdiagnosis. The purpose of this paper is to increase awareness of atypical presentations of LS. Methods: Data base review of de-identified clinical case pictures was performed. All patients had histopathology-confirmed diagnoses of LS. The data base file contains 800 cases of vulvovaginal disorders. The Institutional Review Board (IRB considered that searching a de-identified data base of pictures did not require IRB approval. Results: We identified 15 different atypical clinical cases. Patient ages were 18–75 years old. These patients were asymptomatic for pruritus and were misdiagnosed before they presented to the vulvovaginal specialized clinic. Conclusion: Fifteen patients asymptomatic for pruritus with histopathology-confirmed diagnosis of LS were identified. They illustrate atypical clinical presentations that LS may have. Keywords: vulvovaginal, vulvar, atypical, lichen sclerosus, asymptomatic

  4. Achieving carbon emission reduction through industrial and urban symbiosis: A case of Kawasaki

    International Nuclear Information System (INIS)

    Industry and fossil fuel combustion are the main sources for urban carbon emissions. Most studies focus on energy consumption emission reduction and energy efficiency improvement. Material saving is also important for carbon emission reduction from a lifecycle perspective. IS (Industrial symbiosis) and UrS (urban symbiosis) have been effective since both of them encourage byproduct exchange. However, quantitative carbon emission reduction evaluation on applying them is still lacking. Consequently, the purpose of this paper is to fill such a gap through a case study in Kawasaki Eco-town, Japan. A hybrid LCA model was employed to evaluate to the lifecycle carbon footprint. The results show that lifecycle carbon footprints with and without IS and UrS were 26.66 Mt CO2e and 30.92 Mt CO2e, respectively. The carbon emission efficiency was improved by 13.77% with the implementation of IS and UrS. The carbon emission reduction was mainly from “iron and steel” industry, cement industry and “paper making” industry, with figures of 2.76 Mt CO2e, 1.16 Mt CO2e and 0.34 Mt CO2e, respectively. Reuse of scrape steel, blast furnace slag and waste paper are all effective measures for promoting carbon emission reductions. Finally, policy implications on how to further promote IS and UrS are presented. - Highlights: • We evaluate carbon emission reduction of industrial and urban symbiosis (IS/UrS). • Hybrid LCA model was used to evaluate lifecycle carbon footprint. • Carbon emission efficiency was improved by 13.77% after applying IS/UrS. • The importance of UrS in responding carbon reduction was addressed in the paper

  5. Scrub typhus caused by Orientia tsutsugamushi Kawasaki-related genotypes in Shandong Province, northern China.

    Science.gov (United States)

    Zhang, Luyan; Bi, Zhenwang; Kou, Zengqiang; Yang, Huili; Zhang, Aihua; Zhang, Shoufeng; Meng, Xiangpeng; Zheng, Li; Zhang, Meng; Yang, Hui; Zhao, Zhongtang

    2015-03-01

    Orientia tsutsugamushi, the causative agent of scrub typhus, is an obligate intracellular bacterium and characterized by dramatic genetic diversity. To elucidate the genotypes of O. tsutsugamushi populating in patients in Shandong Province, a new epidemic zone in China, we sequenced partial of the 56-kDa type-specific antigen gene (TSA) and identified the genotypes of 43 O. tsutsugamushi samples from human patients confirmed with scrub typhus from 2010 to 2013. All of the 43 sequences are in the same clade, 39 of them are in one branch and the other four sequences, nominated as SH1002, SH1306, SH1309, and SH1307 are in four separate branches. To clarify the clinical characterizations caused by Kawasaki-related genotypes, we studied the clinical profiles of these 43 scrub typhus patients. Most patients (88.1%) were farmers lived in rural areas. They presented with fever (100.0%), headache (79.1%), dizziness (32.6%), generalized myalgia (48.8%), fatigue (53.5%), anorexia (53.5%), facial flushing (23.3%), conjunctival congestion (11.6%), skin rashes (58.1%) and lymphadenopathy (23.3%). Eschar (97.7%) was quite common in patients, which provided doctors with a luminous clue for diagnosis of scrub typhus. Thrombocytopenia was seen in 23.1% of patients, and three patients (7.0%) had bronchopneumonia. There was no death report in Shandong Province during the study period. The present study provides beneficial data for clinical, serological, and molecular diagnosis of scrub typhus infections, and also provides foundations for subsequent studies. PMID:25575441

  6. Genetics Home Reference: atypical hemolytic-uremic syndrome

    Science.gov (United States)

    ... the genes associated with atypical hemolytic-uremic syndrome C3 CD46 CFB CFH CFHR5 CFI THBD Related Information ... Manual Consumer Version: Thrombocytopenia Merck Manual Professional Version: Complement System Orphanet: Atypical hemolytic-uremic syndrome Patient Support ...

  7. The $\\mathbf \\Gamma$-limit of the two-dimensional Ohta-Kawasaki energy. I. Droplet density

    CERN Document Server

    Goldman, Dorian; Serfaty, Sylvia

    2012-01-01

    This is the first in a series of two papers in which we derive a $\\Gamma$-expansion for a two-dimensional non-local Ginzburg-Landau energy with Coulomb repulsion, also known as the Ohta-Kawasaki model in connection with diblock copolymer systems. In that model, two phases appear, which interact via a nonlocal Coulomb type energy. We focus on the regime where one of the phases has very small volume fraction, thus creating small "droplets" of the minority phase in a "sea" of the majority phase. In this paper we show that an appropriate setting for $\\Gamma$-convergence in the considered parameter regime is via weak convergence of the suitably normalized charge density in the sense of measures. We prove that, after a suitable rescaling, the Ohta-Kawasaki energy functional $\\Gamma$-converges to a quadratic energy functional of the limit charge density generated by the screened Coulomb kernel. A consequence of our results is that minimizers (or almost minimizers) of the energy have droplets which are almost all asy...

  8. Atypical MRI appearance of desmoplastic infantile ganglioglioma

    International Nuclear Information System (INIS)

    We report the atypical MRI features and histopathological findings of a desmoplastic infantile ganglioglioma in an 8-year-old girl. The mass was predominantly solid with a large, solid, non-enhancing exophytic component. The adjacent brain showed cortical necrosis and white-matter gliosis, suggesting earlier hypoxia. (orig.)

  9. Disentangling the Emerging Evidence around Atypical Fractures

    DEFF Research Database (Denmark)

    Abrahamsen, Bo; Clark, Emma M

    2012-01-01

    Atypical femur fractures are rare but a growing concern, as they are more common in patients who use bisphosphonates. The best radiology-based studies have had access to only short-term exposure data, while the studies using prescription databases with substantial long-term data did not have access...

  10. Atypical manifestation of dural arteriovenous fistula.

    Directory of Open Access Journals (Sweden)

    Tripathi R

    2002-01-01

    Full Text Available A case of secondary dural arteriovenous fistula presenting as infantile stroke, in a fifteen month old boy, is reported. The initial impression on CT scan in this case was misleading, due to the atypical appearance of the pathological periventricular blood vessels, interpreted as periventricular calcification.

  11. Observing Behavior and Atypically Restricted Stimulus Control

    Science.gov (United States)

    Dube, William V.; Dickson, Chata A.; Balsamo, Lyn M.; O'Donnell, Kristin Lombard; Tomanari, Gerson Y.; Farren, Kevin M.; Wheeler, Emily E.; McIlvane, William J.

    2010-01-01

    Restricted stimulus control refers to discrimination learning with atypical limitations in the range of controlling stimuli or stimulus features. In the study reported here, 4 normally capable individuals and 10 individuals with intellectual disabilities (ID) performed two-sample delayed matching to sample. Sample-stimulus observing was recorded…

  12. Infant Perception of Atypical Speech Signals

    Science.gov (United States)

    Vouloumanos, Athena; Gelfand, Hanna M.

    2013-01-01

    The ability to decode atypical and degraded speech signals as intelligible is a hallmark of speech perception. Human adults can perceive sounds as speech even when they are generated by a variety of nonhuman sources including computers and parrots. We examined how infants perceive the speech-like vocalizations of a parrot. Further, we examined how…

  13. Atypical fractures on long term bisphosphonates therapy.

    LENUS (Irish Health Repository)

    Hussein, W

    2011-01-01

    Bisphosphonates reduce fractures risk in patients with osteoporosis. A new pattern of fractures is now being noted in patients on prolonged bisphosphonate therapy. We report a case of an atypical femoral fracture with preceding pain and highlight the characteristics of these fractures.

  14. Cohort study of atypical pressure ulcers development.

    Science.gov (United States)

    Jaul, Efraim

    2014-12-01

    Atypical pressure ulcers (APU) are distinguished from common pressure ulcers (PU) with both unusual location and different aetiology. The occurrence and attempts to characterise APU remain unrecognised. The purpose of this cohort study was to analyse the occurrence of atypical location and the circumstances of the causation, and draw attention to the prevention and treatment by a multidisciplinary team. The cohort study spanned three and a half years totalling 174 patients. The unit incorporates two weekly combined staff meetings. One concentrates on wound assessment with treatment decisions made by the physician and nurse, and the other, a multidisciplinary team reviewing all patients and coordinating treatment. The main finding of this study identified APU occurrence rate of 21% within acquired PU over a three and a half year period. Severe spasticity constituted the largest group in this study and the most difficult to cure wounds, located in medial aspects of knees, elbows and palms. Medical devices caused the second largest occurrence of atypical wounds, located in the nape of the neck, penis and nostrils. Bony deformities were the third recognisable atypical wound group located in shoulder blades and upper spine. These three categories are definable and time observable. APU are important to be recognisable, and can be healed as well as being prevented. The prominent role of the multidisciplinary team is primary in identification, prevention and treatment. PMID:23374746

  15. Non-diabetic atypical necrobiosis lipoidica

    Directory of Open Access Journals (Sweden)

    Mittal R

    1994-01-01

    Full Text Available One 8 year female child had asymptomatic, anaesthetic, hypohidrotic, atrophic, yellowish, waxy plaque on the front of left thigh since 2 months. No nerve thickening was observed clinically or histopathologically. Hyperkeratosis, follicular keratosis, epidermal atrophy, degeneration of collagen, mononuclear granulomas and perivascular mononuclear infiltrate confirmed the clinical diagnosis of atypical necrobiosis lipoidica.

  16. Change of Accent as an Atypical Onset of non Fluent Primary Progressive Aphasia

    OpenAIRE

    Susy Paolini; Lucia Paciaroni; Antonio Manca; Roberto Rossi; Daniela Fornarelli; Stefano F. Cappa; Abbatecola, Angela M; Osvaldo Scarpino

    2013-01-01

    Language disorders can be the first symptom of many neurodegenerative diseases, including Alzheimer's disease (AD) and primary progressive aphasia (PPA). The main variants of PPA are: the non-fluent/agrammatic variant, the semantic variant and the logopenic variant.Several additional variants of PPA, however, have been described and are considered as atypical presentations.We describe the case of a woman presenting a progressive isolated language disturbance, characterized by an early dyspros...

  17. Molecular genetics of chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia

    OpenAIRE

    Li, Bing; Gale, Robert Peter; Xiao, Zhijian

    2014-01-01

    According to the 2008 World Health Organization classification, chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia are rare diseases. The remarkable progress in our understanding of the molecular genetics of myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms has made it clear that there are some specific genetic abnormalities in these 3 rare diseases. At the same time, there is considerable overlap among these disord...

  18. Trains of Thought in Treating Infectious Atypical Pneumonia with Integrative Chinese and Western Medicine Approach

    Institute of Scientific and Technical Information of China (English)

    林琳

    2003-01-01

    @@ Infectious atypical pneumonia (also called severe acute respiratory syndrome, SARS by WHO) is a new type of infectious disease, whose disease condition is fierce and ferocious, rapid in changing, seriously threatened human health and life. The author has treated around 200 SARS patients in Guangzhou and Hong Kong with integrative Chinese and western medicine (ICWM) approach from January 2003till present. Now I would like to make a comment on ICWM in treating SARS.

  19. Giant aortic arch aneurysm complicating Kawasaki′s disease

    OpenAIRE

    Kaouthar Hakim; Rafik Boussada; Lilia Chaker; Fatma Ouarda

    2014-01-01

    Kawasaki disease (KD) is a common acute vasculitis in pediatric population that usually involves small- and middle-sized arteries, commonly coronary arteries. Although the incidence and natural course of coronary aneurysms after KD are well documented in studies, related reports on peripheral arterial and aortic aneurysms are scarce. We report the occurrence of a giant aortic aneurysm involving the horizontal part of aortic arch in a 28-month-old boy diagnosed with KD. This complication was m...

  20. Fungal rhinosinusitis with atypical presentation - a report of two cases

    Institute of Scientific and Technical Information of China (English)

    Rafael da Costa Monsanto; Rodrigo Silva Orem; Fernanda Resende e Silva; Fabio Hiroshi Okuyama; Fabio Tadeu Moura Lorenzetti

    2015-01-01

    Rhinosinusitis affects approximately 20% of the population, and the chronic rhinosinusitis represents over 90% of all cases of rhinosinusitis. The correct diagnosis is important for proper treatment and to predict its evolution. This study presents two cases of atypical frontal sinus disease, which the follow-up revealed a diagnosis of fungal rhinosinusitis. The present study aims to describe the cases of two patients with atypical lesions on the left frontal sinus; the treatment options, surgical approach, results, diagnosis and follow-up are further discussed. A significant increase in the reported cases of fungal rhinosinusitis has been seen in the last two decades, justified by the use of broad-spectrum antibiotics and steroids, as well as the increased number of immunocompromised individuals. This study reports the cases of two patients with a type of fungal rhinosinusitis named "fungal ball", characterized by a tangle of hyphae in the sinuses without tissue invasion. The treatment included surgical removal of the fungal infectious process with aeration of the affected sinus, and the procedure was successfully performed in our patients.

  1. Breast Metastases from Extramammary Malignancies: Typical and Atypical Ultrasound Features

    International Nuclear Information System (INIS)

    Breast metastases from extramammary malignancies are uncommon. The most common sources are lymphomas/leukemias and melanomas. Some of the less common sources include carcinomas of the lung, ovary, and stomach, and infrequently, carcinoid tumors, hypernephromas, carcinomas of the liver, tonsil, pleura, pancreas, cervix, perineum, endometrium and bladder. Breast metastases from extramammary malignancies have both hematogenous and lymphatic routes. According to their routes, there are common radiological features of metastatic diseases of the breast, but the features are not specific for metastases. Typical ultrasound (US) features of hematogenous metastases include single or multiple, round to oval shaped, well-circumscribed hypoechoic masses without spiculations, calcifications, or architectural distortion; these masses are commonly located superficially in subcutaneous tissue or immediately adjacent to the breast parenchyma that is relatively rich in blood supply. Typical US features of lymphatic breast metastases include diffusely and heterogeneously increased echogenicities in subcutaneous fat and glandular tissue and a thick trabecular pattern with secondary skin thickening, lymphedema, and lymph node enlargement. However, lesions show variable US features in some cases, and differentiation of these lesions from primary breast cancer or from benign lesions is difficult. In this review, we demonstrate various US appearances of breast metastases from extramammary malignancies as typical and atypical features, based on the results of US and other imaging studies performed at our institution. Awareness of the typical and atypical imaging features of these lesions may be helpful to diagnose metastatic lesions of the breast

  2. Breast Metastases from Extramammary Malignancies: Typical and Atypical Ultrasound Features

    Energy Technology Data Exchange (ETDEWEB)

    Mun, Sung Hee [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of); Department of Radiology, Catholic University of Daegu College of Medicine, Daegu 712-702 (Korea, Republic of); Ko, Eun Young; Han, Boo-Kyung; Shin, Jung Hee [Department of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of); Kim, Suk Jung [Department of Radiology, Inje University College of Medicine, Busan Paik Hospital, Busan 614-735 (Korea, Republic of); Cho, Eun Yoon [Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710 (Korea, Republic of)

    2014-07-01

    Breast metastases from extramammary malignancies are uncommon. The most common sources are lymphomas/leukemias and melanomas. Some of the less common sources include carcinomas of the lung, ovary, and stomach, and infrequently, carcinoid tumors, hypernephromas, carcinomas of the liver, tonsil, pleura, pancreas, cervix, perineum, endometrium and bladder. Breast metastases from extramammary malignancies have both hematogenous and lymphatic routes. According to their routes, there are common radiological features of metastatic diseases of the breast, but the features are not specific for metastases. Typical ultrasound (US) features of hematogenous metastases include single or multiple, round to oval shaped, well-circumscribed hypoechoic masses without spiculations, calcifications, or architectural distortion; these masses are commonly located superficially in subcutaneous tissue or immediately adjacent to the breast parenchyma that is relatively rich in blood supply. Typical US features of lymphatic breast metastases include diffusely and heterogeneously increased echogenicities in subcutaneous fat and glandular tissue and a thick trabecular pattern with secondary skin thickening, lymphedema, and lymph node enlargement. However, lesions show variable US features in some cases, and differentiation of these lesions from primary breast cancer or from benign lesions is difficult. In this review, we demonstrate various US appearances of breast metastases from extramammary malignancies as typical and atypical features, based on the results of US and other imaging studies performed at our institution. Awareness of the typical and atypical imaging features of these lesions may be helpful to diagnose metastatic lesions of the breast.

  3. Inmunofluorescencia con Crithidia luciliae para la detección de anticuerpos anti-ADN: Imágenes atípicas y su relación con enfermedad de Chagas y leishmaniasis Immunofluorescence assay with Crithidia luciliae for the detection of anti-DNA antibodies: Atypical images and their relationship with Chagas’ disease and leishmaniasis

    Directory of Open Access Journals (Sweden)

    Gloria Griemberg

    2006-02-01

    Crithidia luciliae, displaying an annular image due to a kinetoplast containing double stranded DNA. Other structures such as membrane, flagellum and basal corpuscle can be stained as well, showing what is called atypical fluorescent images. As C. luciliae belongs to the Trypanosomatidae family, which include the human pathogens Trypanosoma cruzi and Leishmania spp., it was considered that these atypical images could be caused by cross-reactions. Serological studies for Chagas’ disease were performed in 105 serum samples displaying atypical images. Sixty four percent of the samples from non endemic and 78.3% from endemic areas for Chagas’ disease showed fluorescence in both, membrane and flagellum (joint image. Fifty samples from normal blood donors and 57 samples from patients with conective tissue diseases were tested with C. luciliae. None of them presented the joint image except for two patients with lupus who were also chagasic. In addition, 54 samples from chagasic patients were studied and all of them presented the joint image. We also studied 46 samples from patients with leishmaniasis from whom 28 were co-infected with T. cruzi. The joint image was observed in 88.0% of the samples with leishmaniasis and in 89.3% of the co-infected samples. The results suggest that C. luciliae could be used as an economical, and of low risk, alternative substrate for the serological diagnosis of Chagas’ disease, even though it does not discriminate for Leishmania spp. infection. This study also suggests that whenever atypical images are observed in C. luciliae during the search for anti-DNA antibodies, it would be convenient to submit the patient to clinical and serological tests for the diagnosis of leishmaniosis and Chagas’ disease.

  4. Atypical scrapie in sheep from a UK research flock which is free from classical scrapie

    Directory of Open Access Journals (Sweden)

    Ortiz-Pelaez Angel

    2009-02-01

    Full Text Available Abstract Background In the wake of the epidemic of bovine spongiform encephalopathy the British government established a flock of sheep from which scrapie-free animals are supplied to laboratories for research. Three breeds of sheep carrying a variety of different genotypes associated with scrapie susceptibility/resistance were imported in 1998 and 2001 from New Zealand, a country regarded as free from scrapie. They are kept in a purpose-built Sheep Unit under strict disease security and are monitored clinically and post mortem for evidence of scrapie. It is emphasised that atypical scrapie, as distinct from classical scrapie, has been recognised only relatively recently and differs from classical scrapie in its clinical, neuropathological and biochemical features. Most cases are detected in apparently healthy sheep by post mortem examination. Results The occurrence of atypical scrapie in three sheep in (or derived from the Sheep Unit is reported. Significant features of the affected sheep included their relatively high ages (6 y 1 mo, 7 y 9 mo, 9 y 7 mo respectively, their breed (all Cheviots and their similar PRNP genotypes (AFRQ/AFRQ, AFRQ/ALRQ, and AFRQ/AFRQ, respectively. Two of the three sheep showed no clinical signs prior to death but all were confirmed as having atypical scrapie by immunohistochemistry and Western immunoblotting. Results of epidemiological investigations are presented and possible aetiologies of the cases are discussed. Conclusion By process of exclusion, a likely explanation for the three cases of atypical scrapie is that they arose spontaneously and were not infected from an exterior source. If correct, this raises challenging issues for countries which are currently regarded as free from scrapie. It would mean that atypical scrapie is liable to occur in flocks worldwide, especially in older sheep of susceptible genotypes. To state confidently that both the classical and atypical forms of scrapie are absent from a

  5. Atypical presentations of eosinophilic fasciitis

    Directory of Open Access Journals (Sweden)

    Tulin Ergun

    2016-01-01

    Full Text Available Eosinophilic fasciitis is an uncommon connective tissue disease that may mimic and overlap with other sclerosing disorders such as morphea and lichen sclerosus. Herein, we report four patients (two men and two women, aged 16-64 yeas with eosinophilic fasciitis. There was overlap with both morphea and lichen sclerosus in 2 patients and with morphoea alone in 1 patient. Magnetic resonance imaging (MRI was used for diagnosis in three patients and for assessing treatment response in one patient. Eosinophilic fasciitis may co-exist with morhoea and lichen sclerosus. In view of the overlapping clinical and histopathological features of these disorders, MRI may be helful in delineating the conditions by detecting involvement of fascia.

  6. An atypical presentation of antiphospholipid antibody syndrome

    Directory of Open Access Journals (Sweden)

    Deepti D′Souza

    2015-01-01

    Full Text Available Cutaneous manifestations in antiphospholipid antibody syndrome (APS though common, are extremely diverse and it is important to know which dermatological finding should prompt consideration of antiphospholipid syndrome. The cutaneous manifestations of APS vary from livedo reticularis to cutaneous necrosis, and systemic involvement is invariably an accomplice in APS. Cutaneous ulcers with sharp margins can be seen in APS and they are usually seen on the legs. This case had an atypical presentation, as the initial presentation was painful necrotic ulcers over the legs, which resembled pyoderma gangrenosum and she had no systemic manifestations. There was no history of any arterial or venous thrombosis or any abortions. Antiphospholipid syndrome can be tricky to diagnose when cutaneous lesions are atypical. Nonetheless, it is very important to pin down this syndrome early due to its systemic complications.

  7. Atypical retroperitoneal extension of iliopsoas bursitis

    Energy Technology Data Exchange (ETDEWEB)

    Coulier, B.; Cloots, V. [Department of Diagnostic Imaging, Cliniques St. Luc, Rue St Luc 8, 5004, Bouge, Namur (Belgium)

    2003-05-01

    We report two rare cases of iliopsoas bursitis extending into the retroperitoneal space. The first lesion contained much gas, mimicking a retroperitoneal abscess, and the second was responsible for atypical inguinal pain. The diagnosis was made by contrast-enhanced CT in both cases and arthrography in the first case. Iliopsoas bursitis in these two patients, it is hypothesized, extended into the retroperitoneum, at least in part, by way of intraneural or perineural structures. (orig.)

  8. Atypical burkitt's lymphoma transforming from follicular lymphoma

    OpenAIRE

    Chung Lap P; Loong Florence; Hwang Yu Y; Chim Chor S

    2011-01-01

    Amongst follicular lymphoma that transforms into a high-grade lymphoma, majority are diffuse large B cell lymphoma. Here we reported a rare atypical Burkitt's lymphoma transformation from an asymptomatic follicular lymphoma. Lymph node biopsy showed a composite lymphoma with infiltration of the inter-follicular areas by high grade small non-cleaved lymphoma cells amongst neoplastic follicles. Moreover, FISH and molecular genetic study confirmed concomitant MYC translocations and t(14;18) in t...

  9. Atypical Herpes Zoster as a clinic begining of Acquired Immunodeficiency Syndrome. A case report

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Blanco Córdova

    2015-02-01

    Full Text Available The Herpes Zoster is produced by the reactivation of the Chicken Pox Zoster Virus. It has an incidence of three cases for each thousand inhabitants a year, and they increase the possibility to suffer it with the age. A 48 year old case of a patient with atypical Zoster with postherpetic neuralgia who came to the Dermatology consultation with cutaneous and mucous lesions is presented. This article has the objective to describe the evolution of the Herpes Zoster in the last patient diagnosed like seropositive to the virus of Human Immunodeficiency Virus It is considered of concern once both entities association was given, indicator that although Herpes Zoster incidence is low, considering the possible presence of diseases that involve the immune system. We conclude that in the presence of the clinical variety of Atypical Herpes Zoster, the coexistence of other diseases that compromise the immune system, as the Human Immunodeficiency Virus must be considered.

  10. Atypical evening cortisol profile induces visual recognition memory deficit in healthy human subjects

    Directory of Open Access Journals (Sweden)

    Gilpin Heather

    2008-08-01

    Full Text Available Abstract Background Diurnal rhythm-mediated endogenous cortisol levels in humans are characterised by a peak in secretion after awakening that declines throughout the day to an evening trough. However, a significant proportion of the population exhibits an atypical cycle of diurnal cortisol due to shift work, jet-lag, aging, and mental illness. Results The present study has demonstrated a correlation between elevation of cortisol in the evening and deterioration of visual object recognition memory. However, high evening cortisol levels have no effect on spatial memory. Conclusion This study suggests that atypical evening salivary cortisol levels have an important role in the early deterioration of recognition memory. The loss of recognition memory, which is vital for everyday life, is a major symptom of the amnesic syndrome and early stages of Alzheimer's disease. Therefore, this study will promote a potential physiologic marker of early deterioration of recognition memory and a possible diagnostic strategy for Alzheimer's disease.

  11. Fever with Rash, an Alarm to the Physicians - A Case Report of Atypical Measles.

    Science.gov (United States)

    Raman, Prabhakaran; Hussaini, Syed Bahavudeen; Saravanan, Paramasivam; Jeyaram, Kuttuva

    2016-02-01

    Measles is a highly contagious disease caused by Paramyxovirus group. It has been estimated that globally deaths occurs out of measles. The disease still remains as one of the leading cause of death among young children and adults despite the effective vaccination. The outbreak of measles is on rise in recent years with serologically confirmed cases in India. The incidence and complications of atypical measles is usually severe among older age groups even prior immunization. We report a case of 15-year-old male with symptoms of fever and rash with possible differential diagnosis and emphasize on the clinical presentation of atypical measles among adolescent age group with an additional evidence of investigations. PMID:27042506

  12. Conjuntivite granulomatosa atípica causada pela doença da arranhadura do gato: relato de caso Cat-scratch disease causing atypical granulomatous conjunctivitis: case report

    Directory of Open Access Journals (Sweden)

    Alexandre Hassler Príncipe de Oliveira

    2004-06-01

    Full Text Available Relatamos caso de paciente do sexo feminino, brasileira, 23 anos, residente na Alemanha, que cursou com quadro de conjuntivite granulomatosa bilateral crônica, sem acometimento ganglionar, não responsiva a tratamento tópico. A pesquisa laboratorial confirmou diagnóstico de conjuntivite por Bartonella henselae. O caso demonstra que a ausência de acometimento ganglionar não exclui o diagnóstico de doença da arranhadura do gato.We report a case of a 23-year-old female patient, Brazilian, resident of Germany, who presented with a bilateral chronic granulomatous conjunctivitis, without lymphoadenopathy and irresponsive to topical treatment. Laboratorial work-up confirmed Bartonella henselae as the etiologic agent. The case shows that the absence of lymphoadenopathy does not exclude the diagnosis of cat-scratch disease.

  13. Characterization of the atypical lymphocytes in African swine fever

    Science.gov (United States)

    Karalyan, Z. A.; Ter-Pogossyan, Z. R.; Abroyan, L. O.; Hakobyan, L. H.; Avetisyan, A. S.; Yu, Karalyan N.; Karalova, E. M.

    2016-01-01

    Aim: Atypical lymphocytes usually described as lymphocytes with altered shape, increased DNA amount, and larger size. For analysis of cause of genesis and source of atypical lymphocytes during African swine fever virus (ASFV) infection, bone marrow, peripheral blood, and in vitro model were investigated. Materials and Methods: Atypical lymphocytes under the influence of ASFV were studied for morphologic, cytophotometric, and membrane surface marker characteristics and were used in vivo and in vitro models. Results: This study indicated the increased size, high metabolic activity, and the presence of additional DNA amount in atypical lymphocytes caused by ASFV infection. Furthermore, in atypical lymphocytes, nuclear-cytoplasmic ratio usually decreased, compared to normal lymphocytes. In morphology, they looking like lymphocytes transformed into blasts by exposure to mitogens or antigens in vitro. They vary in morphologic detail, but most of them are CD2 positive. Conclusions: Our data suggest that atypical lymphocytes may represent an unusual and specific cellular response to ASFV infection. PMID:27536044

  14. The genome of Chelonid herpesvirus 5 harbors atypical genes.

    Science.gov (United States)

    Ackermann, Mathias; Koriabine, Maxim; Hartmann-Fritsch, Fabienne; de Jong, Pieter J; Lewis, Teresa D; Schetle, Nelli; Work, Thierry M; Dagenais, Julie; Balazs, George H; Leong, Jo-Ann C

    2012-01-01

    The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5) is believed to be the causative agent of fibropapillomatosis (FP), a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within the alphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2), an orthologue to the mouse cytomegalovirus M04 (F-M04) and a viral sialyltransferase (F-sial). Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1) the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2) Using FP-associated UL52 (F-UL52) as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of "atypical" DNA in independent FP cases. (3) Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4) The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis. PMID:23056373

  15. The genome of Chelonid herpesvirus 5 harbors atypical genes

    Science.gov (United States)

    Ackermann, Mathias; Koriabine, Maxim; Hartmann-Fritsch, Fabienne; de Jong, Pieter J.; Lewis, Teresa D.; Schetle, Nelli; Work, Thierry M.; Dagenais, Julie; Balazs, George H.; Leong, Jo-Ann C.

    2012-01-01

    The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5) is believed to be the causative agent of fibropapillomatosis (FP), a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within the alphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2), an orthologue to the mouse cytomegalovirus M04 (F-M04) and a viral sialyltransferase (F-sial). Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1) the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2) Using FP-associated UL52 (F-UL52) as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of "atypical" DNA in independent FP cases. (3) Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4) The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis.

  16. Uremic Encephalopathy with Atypical Magnetic Resonance Features on Diffusion-Weighted Images

    OpenAIRE

    Kang, Eugene; Jeon, Se Jeong; Choi, See-Sung

    2012-01-01

    Uremic encephalopathy is a well-known disease with typical MR findings including bilateral vasogenic or cytotoxic edema at the cerebral cortex or basal ganglia. Involvement of the basal ganglia has been very rarely reported, typically occurring in uremic-diabetic patients. We recently treated a patient who had non-diabetic uremic encephalopathy with an atypical lesion distribution involving the supratentorial white matter, without cortical or basal ganglia involvement. To the best of our know...

  17. Vaccination of Atlantic cod (Gadus morhua L.) against atypical furunculosis using different adjuvants

    OpenAIRE

    Hamid, Lemia M.O

    2003-01-01

    In recent years increased attention has been focussed on fish vaccines and vaccination against diseases in farmed fish. In this study, efficacy and side effects of vaccination against atypical furunculosis in Atlantic cod (Gadus morhua L.) were studied in an experimental trial by using different adjuvants. The different adjuvanted vaccines were administered by intraperitoneal injection (i.p.) to Atlantic cod. The adjuvants used were CpG DNA, Aluminium hydroxide (Alhydrogel), an...

  18. An empirical comparison of atypical bulimia nervosa and binge eating disorder

    OpenAIRE

    Fontenelle L.F.; Mendlowicz M.V.; Moreira R.O.; Appolinario J.C.

    2005-01-01

    The International Classification of Diseases, 10th edition (ICD-10) defines atypical bulimia nervosa (ABN) as an eating disorder that encompasses several different syndromes, including the DSM-IV binge eating disorder (BED). We investigated whether patients with BED can be differentiated clinically from patients with ABN who do not meet criteria for BED. Fifty-three obese patients were examined using the Structured Clinical Interview for DSM-IV and the ICD-10 criteria for eating disorders. Al...

  19. New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome

    OpenAIRE

    Lopes, Daniela; Gomes, Ana Marta; Cunha, Cátia; Pinto, Catarina Silva; Fidalgo, Teresa; Fernandes, João Carlos

    2015-01-01

    Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years af...

  20. Atypical Manifestations of Dengue Fever (DF) – Where Do We Stand Today?

    OpenAIRE

    Nimmagadda, Satya Sudhish; Mahabala, Chakrapani; Boloor, Archith; Raghuram, Pavan Manibettu; Nayak U., Akshatha

    2014-01-01

    Background and Objectives: Dengue fever (DF) is transmitted by Aedes aegypti mosquitoes. With growing population, rapid urbanization and lack of appropriate sanitary measures, proliferation of mosquitoes and subsequent dengue infections have increased rampantly with an estimated 30-fold increase in incidence over last five decades. With rising disease burden, atypical manifestations have increased as well, which are missed most often due to lack of awareness. Our aim was to look for the atypi...

  1. Neuromyelitis optica in a child with atypical onset and severe outcome.

    Science.gov (United States)

    Milani, N; Zibordi, F; Erbetta, A; Pollo, B; Angelini, L

    2004-06-01

    We report on a seven-year-old boy with inflammatory relapsing-remitting CNS disease, involving the optic nerves and spinal cord, with increasingly severe sequelae after each relapse. Clinical course, neuroimaging and laboratory findings were consistent with neuromyelitis optica. Biopsy of leptomeninges and underlying nervous tissue showed increased vascularization and thickened hyalinized vessel walls, reported as suggestive for neuromyelitis optica. Clinical features at onset were atypical, rendering the case highly unusual and the diagnosis tentative. PMID:15248104

  2. Clinicoroentgenological diagnosis of cholelithic diseases in men

    International Nuclear Information System (INIS)

    105 case records of men with diagnosis of cholelithic diseases are studied. 85 of them were operated. It is concluded that cholelithic disease is more frequent in men than it is diagnosed because of atypical clinical picture. In the case of atypical character of cholelithic disease diagnostics was based on combined X-ray examination of digestive tract using X television and video tape recording. Taking account of the obtained clinicoroentgenologic data and operative findings it is stated that cholelithic disease in men is frequent. Atypical course of cholelithic disease result in delayed diagnostics followed by serious complications

  3. Management of Typical and Atypical Hangman's Fractures

    Science.gov (United States)

    Al-Mahfoudh, Rafid; Beagrie, Christopher; Woolley, Ele; Zakaria, Rasheed; Radon, Mark; Clark, Simon; Pillay, Robin; Wilby, Martin

    2015-01-01

    Study Design Retrospective study of a prospectively maintained database. Objective Our aim was to retrospectively review management and outcomes of patients with low-grade hangman's fractures, specifically looking at differences in outcomes between collars and halo immobilization. We also studied fracture patterns and their treatment outcomes. Methods Forty-one patients with hangman's fractures were identified from 105 patients with axis fractures between 2007 and 2013. Typical hangman's fractures were defined as traumatic spondylolisthesis of the axis causing a bilateral pars interarticularis fracture. Fractures involving the posterior cortex of C2 on one or both sides or an asymmetrical pattern were defined as atypical. Results There were 41 patients with a mean age of 59 years, with 13 (31.7%) typical and 28 (68.2%) atypical fractures. There were 22 (53.6%) type 1 fractures, 7 (41.4%) type 2 fractures, and 2 (4.9%) type 2a fractures in this series. Cervical collars were used to manage 11 patients (27% of all patients with hangman's fractures) and halo orthosis was used in 27 (65.8%). Three (7.3%) patients underwent surgical fixation of the fracture. Bony union was achieved in all patients on radiologic follow-up. Permanent neurologic deficit occurred in one patient due to associated injuries. Neck pain and stiffness were reported more commonly in the atypical group, but this finding was not statistically significant. Conclusions The majority of hangman type fractures can be treated nonoperatively. We found no difference in outcomes between a rigid collar or halo immobilization for treatment of low-grade fractures. Radiologic follow-up is essential to identify cases of nonunion. PMID:27099816

  4. Hematological Side Effects of Atypical Antipsychotic Drugs

    Directory of Open Access Journals (Sweden)

    Serap Erdogan

    2009-10-01

    Full Text Available Atypical antipsychotics cause less frequently extrapyramidal system symptoms, neuroleptic malignant syndrome and hyperprolactinemia than typical antipsychotics. However hematological side effects such as leukopenia and neutropenia could occur during treatment with atypical antipsychotics. These side effects could lead to life threatening situations and the mortality rate due to drug related agranulocytosis is about 5-10%. There are several hypothesis describing the mechanisms underlying drug induced leukopenia and/or neutropenia such as direct toxic effects of these drugs upon the bone marrow or myeloid precursors, immunologic destruction of the granulocytes or supression of the granulopoiesis. Clozapine is the antipsychotic agent which has been most commonly associated with agranulocytosis. A nitrenium ion which is formed by the bioactivation of clozapine is thought to have an important role in the pathophysiogy of this adverse effect. Aside from clozapine, there are several case reports reporting an association between olanzapine, quetiapine, risperidone, ziprasidone, aripiprazole and leukopenia. We did not find any study or case report presenting amisulpride or sulpride related hematological side effects in our literature search. Patients who had hematological side effects during their previous antipsychotic drug treatments and who had lower baseline blood leukocyte counts, have higher risk to develop leukopenia or neutropenia during their current antipsychotic treatment. Once leukopenia and neutropenia develops, drugs thought to be responsible for this side effect should be discontinued or dosages should be lowered. In some cases iniatition of lithium or G-CSF (granulocyte colony-stimulating factor therapy may be helpful in normalizing blood cell counts. Clinicans should avoid any combination of drugs known to cause hematological side effects. Besides during antipsychotic treatment, infection symptoms such as fever, cough, sore throat or

  5. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  6. Atypical Trigeminal Neuralgia Secondary to Meningioma

    OpenAIRE

    Premeshwar Niwant; Mukta Motwani; Sushil Naik

    2015-01-01

    Trigeminal neuralgia is a disorder of the fifth cranial nerve that causes episodes of intense, stabbing, electric shock-like pain that lasts from few seconds to few minutes in the areas of the face where the branches of the nerve are distributed. More than one nerve branch can be affected by the disorder. We report an unusual case of trigeminal neuralgia affecting right side of face presenting atypical features of neuralgia and not responding to the usual course of treatment. The magnetic res...

  7. Atypical Teratoid/Rrhabdoid Tumour of Brain

    Directory of Open Access Journals (Sweden)

    Meena Sidhu,P.Sakhuja,V.Malhotra,R.Gondal S.Kumar

    2003-04-01

    Full Text Available Primitive neuroectodermal tumor (PNET / medulloblastoma (MB are the most commonmalignantcentral nervous tumors of the first decade of life. Atypical teratoid / rhabdoid tumor (ATT / RT isa tumor of infancy and childhood although occasional cases have also been described in adults.ATT/RT has a characteristic histopathological, immunocytochemical and ultrastructural features.ATT /RT is a rare tumor, incidence of which remains to be defined with only hundred publishedcases. The present report docurilents the clinical features, histological and immunohistochemicalfindings of a case ofATT / RT.

  8. Nevo displásico (nevo atípico Dysplastic nevus (atypical nevus

    Directory of Open Access Journals (Sweden)

    Gisele Gargantini Rezze

    2010-12-01

    Full Text Available O nevo atípico (displásico é considerado um fator importante associado com o risco aumentado de desenvolvimento do melanoma cutâneo. Acredita-se que nevos atípicos sejam lesões precursoras do melanoma cutâneo. Podem estar presentes em pacientes com múltiplos nevos melanocíticos (síndrome do nevo atípico ou isolados e em poucas quantidades em um contexto não familial. Aparecem, geralmente, na puberdade e prevalecem em indivíduos jovens. Têm predileção por áreas expostas ao sol, especialmente, o tronco. O grande desafio em relação ao nevo atípico reside na controvérsia em se definir sua nomenclatura, diagnóstico clínico, critérios dermatoscópicos, diagnóstico histopatológico e aspectos moleculares. Esta revisão tem por objetivo trazer o conhecimento, facilitar o entendimento e responder às questões duvidosas concernentes ao nevo atípico.Atypical nevum (dysplastic is considered an important factor associated with increased risk of developing cutaneous melanoma. It is believed that atypical nevi are precursor lesions of cutaneous melanoma. They may be present in patients with multiple melanocytic nevi (atypical nevus syndrome or isolated and in small numbers in a non-familial context. The disease usually begins at puberty and predominates in young people. It has a predilection for sun-exposed areas, especially the trunk. The major challenge in relation to atypical nevi lies in the controversy of defining its nomenclature, clinical diagnosis, dermoscopic criteria, histopathological diagnosis and molecular aspects. This review aims at bringing knowledge, facilitating comprehension and clarifying doubts about atypical nevus.

  9. Keloidal Atypical Fibroxanthoma: Case and Review of the Literature

    Science.gov (United States)

    Tongdee, Emily; Touloei, Khasha; Shitabata, Paul K.; Shareef, Shahjahan; Maranda, Eric L.

    2016-01-01

    Keloidal atypical fibroxanthoma (KAF) has recently been categorized as a variant of atypical fibroxanthoma. This paper will emphasize the importance of including KAF in both clinical and histological differential diagnosis of benign and malignant lesions which exhibit keloidal collagen and will also review the current literature on epidemiology, pathogenesis, histology, immunochemistry and treatments. PMID:27462224

  10. Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Sullivan, Maren; Rybicki, Lisa A; Winter, Aurelia; Hoffmann, Michael M; Reiermann, Stefanie; Linke, Hannah; Arbeiter, Klaus; Patzer, Ludwig; Budde, Klemens; Hoppe, Bernd; Zeier, Martin; Lhotta, Karl; Bock, Andreas; Wiech, Thorsten; Gaspert, Ariana; Fehr, Thomas; Woznowski, Magdalena; Berisha, Gani; Malinoc, Angelica; Goek, Oemer-Necmi; Eng, Charis; Neumann, Hartmut P H

    2011-11-01

    Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive care perspective. However, clinical data for family counselling are scarce. From the German-Speaking-Countries-aHUS-Registry, 33 index patients with mutations were approached for permission to offer relatives screening for their family-specific mutations and to obtain demographic and clinical data. Mutation screening was performed using direct sequencing. Age-adjusted penetrance of aHUS was calculated for each gene in index cases and in mutation-positive relatives. Sixty-one relatives comprising 41 parents and 20 other relatives were enrolled and mutations detected in 31/61. In total, 40 research participants had germline mutations in CFH, 19 in CD46 and in 6 CFI. Penetrance at age 40 was markedly reduced in mutation-positive relatives compared to index patients overall with 10% versus 67% (P < 0.001); 6% vs. 67% (P < 0.001) in CFH mutation carriers and 21% vs. 70% (P= 0.003) in CD46 mutation carriers. Age-adjusted penetrance for hereditary aHUS is important to understand the disease, and if replicated in the future, for genetic counselling. PMID:21906045

  11. Septic arthritis of the pubic symphysis: an atypical abdominal pain.

    Science.gov (United States)

    Ghislain, L; Heylen, A; Alexis, F; Tintillier, M

    2015-02-01

    Septic arthritis of the pubic symphysis is a rare infection mostly caused by Staphylococcus aureus, and is traditionally associated with risk factors (sports, female incontinence surgery). Typical features of pubic symphysis infection include abdominal, pelvic, or groin pain that increases upon standing and walking, causing limping to occur. Acute onset of fever is often associated. It is important to distinguish septic arthritis of the pubic symphysis from its aseptic homologue, improperly called 'osteitis pubis' in English literature. This general term is mostly used to designate a mechanical pubic pain and has several aetiological meanings (joint stress, postoperative pain, rheumatic diseases). However, some authors consider the infection of the pubic symphysis as a variant of osteitis pubis, placing the two diseases in the continuum of the same entity. This confusion in pubic pathology related to its rarity and its atypical presentation, may in some cases lead to diagnostic and therapeutic delay. In this article, we would like to make practitioners aware of this uncommon and often ignored anatomical site, so that it can recover its place in the differential diagnosis of abdominal pain. PMID:25227947

  12. Assesment, treatment and prevention of atypical hemolytic uremic syndrome

    Directory of Open Access Journals (Sweden)

    Azar Nickavar

    2013-01-01

    Full Text Available Hemolytic uremic syndrome (HUS is a heterogeneous group of hemolytic disorders. Different terminologies have been described in HUS, which are as follows: (1 D+ HUS: Presentation with a preceding diarrhea; (2 typical HUS: D+ HUS with a single and self-limited episode; (3 atypical HUS (aHUS: Indicated those with complement dysregulation; (4 recurrent HUS: Recurrent episodes of thrombocytopenia and/or microangiopathic hemolytic anemia (MAHA after improvement of hematologic abnormalities; and (5 familial HUS: Necessary to distinct synchronous outbreaks of D+ HUS in family members and asynchronous disease with an inherited risk factor. aHUS is one of the potential causes of end-stage renal disease (ESRD in children. It has a high recurrence after renal transplantation in some genetic forms. Therefore, recognition of the responsible mechanism and proper prophylactic treatment are recommended to prevent or delay the occurrence of ESRD and prolong the length of survival of the transplanted kidney. A computerized search of MEDLINE and other databases was carried out to find the latest results in pathogenesis, treatment, and prevention of aHUS.

  13. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

    Science.gov (United States)

    Le Ber, Isabelle; De Septenville, Anne; Guerreiro, Rita; Bras, José; Camuzat, Agnès; Caroppo, Paola; Lattante, Serena; Couarch, Philippe; Kabashi, Edor; Bouya-Ahmed, Kawtar; Dubois, Bruno; Brice, Alexis

    2014-10-01

    TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were identified in rare families with frontotemporal lobar degeneration (FTLD) but without bone involvement. We identified a p.Thr66Met heterozygous mutation in a new consanguineous Italian family. Two sibs had early onset autosomal recessive FTLD without severe bone disorders. Atypical signs were present in this family: early parietal and hippocampus involvement, parkinsonism, epilepsy, and corpus callosum thickness on brain magnetic resonance imaging. This study further demonstrates the implication of TREM2 mutations in FTLD phenotypes. It illustrates the variability of bone phenotype and underlines the frequency of atypical signs in TREM2 carriers. This and previous studies evidence that TREM2 mutation screening should be limited to autosomal recessive FTLD with atypical phenotypes characterized by: (1) a very young age at onset (20-50 years); (2) early parietal and hippocampal deficits; (3) the presence of seizures and parkinsonism; (4) suggestive extensive white matter lesions and corpus callosum thickness on brain magnetic resonance imaging. PMID:24910390

  14. [Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report].

    Science.gov (United States)

    Lista Martínez, Olalla; Rivas López, Luis Alfredo; Pombo Otero, Jorge Francisco; Amaro Cendón, Santiago; Bravo García, Christian; Villa Fernández, Juan Manuel

    2014-01-01

    Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN. A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation. EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence. PMID:24837842

  15. [Moyamoya disease].

    Science.gov (United States)

    Esin, R G; Isayeva, Yu N; Gorobets, E A; Tokareva, N V; Esin, O R

    2016-01-01

    Moya-moya is a rare cerebrovascular disease characterized by the progressive occlusion of cerebral vessels with partial switching off the circle of Willis and arteries that feed it. The article provides a review of literature, modern diagnostic criteria and a description of a single clinical case. The onset of the disease in this patient was characterized by headache and speech disorders.An analysis of speech disorders showed that they were systemic. They were registered at all language levels (phonetic, lexical,morphological, syntactic). A long diagnostic search may be explained by clinical manifestations that are atypical for other cerebrovascular diseases and by the rarity of the disease. PMID:27386589

  16. Imaging the neurobiological substrate of atypical depression by SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Pagani, Marco [Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Karolinska University Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Salmaso, Dario [Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Nardo, Davide [University of Rome La Sapienza, Department of Psychology, Rome (Italy); Jonsson, Cathrine; Larsson, Stig A. [Karolinska University Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Jacobsson, Hans [Karolinska University Hospital, Department of Radiology, Stockholm (Sweden); Gardner, Ann [Karolinska University Hospital Huddinge, Karolinska Institutet, Department of Clinical Neuroscience, Section of Psychiatry, Stockholm (Sweden)

    2007-01-15

    Neurobiological abnormalities underlying atypical depression have previously been suggested. The purpose of this study was to explore differences at functional brain imaging between depressed patients with and without atypical features and healthy controls. Twenty-three out-patients with chronic depressive disorder recruited from a service for patients with audiological symptoms were investigated. Eleven fulfilled the DSM-IV criteria for atypical depression (mood reactivity and at least two of the following: weight gain, hypersomnia, leaden paralysis and interpersonal rejection sensitivity). Twenty-three healthy subjects served as controls. Voxel-based analysis was applied to explore differences in {sup 99m}Tc-HMPAO uptake between groups. Patients in the atypical group had a higher prevalence of bilateral hearing impairment and higher depression and somatic distress ratings at the time of SPECT. Significantly higher tracer uptake was found bilaterally in the atypical group as compared with the non-atypicals in the sensorimotor (Brodmann areas, BA1-3) and premotor cortex in the superior frontal gyri (BA6), in the middle frontal cortex (BA8), in the parietal associative cortex (BA5, BA7) and in the inferior parietal lobule (BA40). Significantly lower tracer distribution was found in the right hemisphere in the non-atypicals compared with the controls in BA6, BA8, BA44, BA45 and BA46 in the frontal cortex, in the orbito-frontal cortex (BA11, BA47), in the postcentral parietal cortex (BA2) and in the multimodal association parietal cortex (BA40). The differences found between atypical and non-atypical depressed patients suggest different neurobiological substrates in these patient groups. The putative links with the clinical features of atypical depression are discussed. These findings encourage the use of functional neuroimaging in psychiatric disorders. (orig.)

  17. Imaging the neurobiological substrate of atypical depression by SPECT

    International Nuclear Information System (INIS)

    Neurobiological abnormalities underlying atypical depression have previously been suggested. The purpose of this study was to explore differences at functional brain imaging between depressed patients with and without atypical features and healthy controls. Twenty-three out-patients with chronic depressive disorder recruited from a service for patients with audiological symptoms were investigated. Eleven fulfilled the DSM-IV criteria for atypical depression (mood reactivity and at least two of the following: weight gain, hypersomnia, leaden paralysis and interpersonal rejection sensitivity). Twenty-three healthy subjects served as controls. Voxel-based analysis was applied to explore differences in 99mTc-HMPAO uptake between groups. Patients in the atypical group had a higher prevalence of bilateral hearing impairment and higher depression and somatic distress ratings at the time of SPECT. Significantly higher tracer uptake was found bilaterally in the atypical group as compared with the non-atypicals in the sensorimotor (Brodmann areas, BA1-3) and premotor cortex in the superior frontal gyri (BA6), in the middle frontal cortex (BA8), in the parietal associative cortex (BA5, BA7) and in the inferior parietal lobule (BA40). Significantly lower tracer distribution was found in the right hemisphere in the non-atypicals compared with the controls in BA6, BA8, BA44, BA45 and BA46 in the frontal cortex, in the orbito-frontal cortex (BA11, BA47), in the postcentral parietal cortex (BA2) and in the multimodal association parietal cortex (BA40). The differences found between atypical and non-atypical depressed patients suggest different neurobiological substrates in these patient groups. The putative links with the clinical features of atypical depression are discussed. These findings encourage the use of functional neuroimaging in psychiatric disorders. (orig.)

  18. Nigral involvement in atypical parkinsonisms: evidence from a pilot study with ultra-high field MRI.

    Science.gov (United States)

    Frosini, Daniela; Ceravolo, Roberto; Tosetti, Michela; Bonuccelli, Ubaldo; Cosottini, Mirco

    2016-05-01

    Ten healthy subjects (HS) and 15 patients with atypical parkinsonisms underwent 7-T susceptibility-weighted-imaging MR to evaluate substantia nigra (SN). All HS were judged "normal". Twelve out of 15 patients exhibited bilateral abnormal SN while three patients with corticobasal degeneration (CBD) showed bilateral normal aspect of SN. Anatomical changes of SN at 7 T occur in multiple system atrophy and progressive supranuclear palsy as previously reported in Parkinson's disease. Preserved SN in CBD confirms the pathological heterogeneity of this disease. PMID:26943945

  19. Cryptogenic organizing pneumonia: typical and atypical imaging features on computed tomography

    International Nuclear Information System (INIS)

    Organizing pneumonia (OP) occurs without any identifiable cause (''cryptogenic organizing pneumonia'') as well as secondary to a multitude of disorders of various origins (''secondary organizing pneumonia''). Possible triggers are infections, drugs, collagen vascular disease, inflammatory bowel disease, transplantations, and radiation directed to the chest. The present manuscript provides an overview of the histopathological, clinical and CT imaging features of OP. Classic CT morphologies (peripheral and peribronchovascular consolidations and ground glass opacities) and atypical imaging features (nodules, crazy paving, lines and bands, perilobular consolidations and the reversed halo sign) are discussed. (orig.)

  20. Atypical Radiological Manifestation of Pulmonary Metastatic Calcification

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Eun Hae; Kim, Eun Sun; Kim, Chul Hwan; Ham, Soo Youn; Oh, Yu Whan [Korea University College of Medicine, Seoul (Korea, Republic of)

    2008-04-15

    Metastatic pulmonary calcification is a condition of calcium deposition in the normal pulmonary parenchyma, and this is secondary to abnormal calcium metabolism without any prior soft tissue damage. The predisposing factors for this condition include chronic renal failure, hypercalcemia and increased tissue alkalinity. The most common radiologic manifestation consists of poorly defined nodular opacities in the upper lung zone. These opacities reflect the deposition of calcium salts in the pulmonary interstitium. We present here a case of metastatic pulmonary calcification in a patient who recovered from pneumonia with sepsis and whose high-resolution CT (HRCT) images demonstrated localized parenchymal airspace calcification that was limited to the bilateral lower lobes. These lower lobes had been involved with pneumonic consolidation without calcification, as seen on the previous CT scan. In summary, we report here on an atypical presentation of metastatic pulmonary calcification that showed dense airspace consolidation localized to the bilateral lower lobes in a patient with primary hyperparathyroidism and pneumonia.

  1. [Atypical early posttraumatic syndromes (author's transl)].

    Science.gov (United States)

    Muller, G E

    1974-01-01

    In a consecutive series of 1,925 head injuries, 283 patients (14.7%), could not be classified, neither in the group of simple head injuries without cerebral symptoms, nor in the group of typical concussions characterized by immediate amnesia or observed coma. We have prefered the rather neutral term of atypical early posttraumatic syndromes. In this group, apart from neurovegetative manifestations, partial disturbances of consciousness and perception, we have also classified delayed disturbances of consciousness. Special attention has been given to migraineous phenomena and to a syndrome, characteristic for children, described by Mealey. This is an intermediate group important from a medico-legal point of view because certain transient cerebral manifestations risk to be mistaken for psychological reactions. On the other hand symptoms probably of psychic origin were discussed. PMID:4469864

  2. Pedal edema associated with atypical antipsychotics

    Directory of Open Access Journals (Sweden)

    Santanu Munshi

    2016-01-01

    Full Text Available This study describes a patient diagnosed as a case of bipolar affective disorder complaining of bothersome incidence of pedal edema 1 month after the initiation of atypical antipsychotic regimen with risperidone and quetiapine. All hematological and biochemical profiles were found to be normal. On discontinuation of risperidone, the condition remained unresolved even after 2 weeks, and the edema progressed reaching her calves. On tapering the dose of quetiapine, she started showing gradual improvement in edematous condition. Quetiapine was slowly discontinued. No further recurrence of edema occurred, and hence, no further medication changes were implemented. Pedal edema was found to be resolved within weeks of dechallenge of the regimen. Naranjo adverse drug reaction probability scale gave a score of 7 which denotes "probable" adverse drug reaction with quetiapine.

  3. [Treatment of atypical and neurotic depression].

    Science.gov (United States)

    Leitner, P; Umann, E; Kulawik, H

    1986-10-01

    Hitherto it has not been usual to talk in the German language about the therapy-oriented concept of two forms of the progress of atypical depression (Type A and Type V). The characteristic symptom of Type A is angst, together with phobias, physical complaints, etc. In Type V there are vegetative symptoms, often towards evening (Hypersomnia, difficulty in getting to sleep, increased appetite, increased weight, increased libido), accompanied by hysterical extrovert personality traits, and of intermittent occurrence. These clinical pictures are amenable to psychopharmalogical therapy. In conformity with the assumption of "somatic accommodation" treatment with antidepressives is recommended in the case neurotic depression, too, at least in the initial stages of treatment. PMID:3809300

  4. Atypical subtrochanteric and diaphyseal femoral fractures

    DEFF Research Database (Denmark)

    Shane, Elizabeth; Burr, David; Abrahamsen, Bo;

    2014-01-01

    Bisphosphonates (BPs) and denosumab reduce the risk of spine and nonspine fractures. Atypical femur fractures (AFFs) located in the subtrochanteric region and diaphysis of the femur have been reported in patients taking BPs and in patients on denosumab, but they also occur in patients with no...... exposure to these drugs. In this report, we review studies on the epidemiology, pathogenesis, and medical management of AFFs, published since 2010. This newer evidence suggests that AFFs are stress or insufficiency fractures. The original case definition was revised to highlight radiographic features that...... distinguish AFFs from ordinary osteoporotic femoral diaphyseal fractures and to provide guidance on the importance of their transverse orientation. The requirement that fractures be noncomminuted was relaxed to include minimal comminution. The periosteal stress reaction at the fracture site was changed from a...

  5. Patterns and predictors of atypical language representation in epilepsy.

    Science.gov (United States)

    Dijkstra, Krijn Kristian; Ferrier, Cyrille Henri

    2013-04-01

    In the majority of the normal population, the left hemisphere is dominant for language. In epilepsy, a higher proportion of 'atypical' language representation is encountered. This can follow one of three patterns: (1) altered interhemispheric representation, where the spectrum of lateralisation is shifted to the right; (2) interhemispheric dissociation of linguistic subfunctions; or (3) intrahemispheric changes in representation. Knowledge of these patterns is essential for avoiding postoperative language deficits in epilepsy patients undergoing surgery. Several predictors of atypical language representation exist. It is more prevalent in left-handed individuals. Lesions in rough proximity to classical language areas are more associated with atypical language, although in some cases, remote lesions, such as in the hippocampus, can also lead to altered language representation. The more disruptive the lesion, the more likely atypical language is to be found. Widespread and frequent interictal epileptiform discharges are also associated with atypical language. Atypical language representation is more likely to be present when injury or epilepsy onset occurred at a young age. Thus, a subgroup of patients can be defined in whom atypical language representation is more likely to be found. PMID:22942215

  6. Malignant atypical cell in urine cytology: a diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Kakkar Nandita

    2006-01-01

    Full Text Available Abstract Aims The aim of this study was to find out the characteristic morphology of malignant atypical cells which were missed on routine cytology of urine. Materials and methods In this retrospective study, we examined detailed cytomorphology of 18 cases of atypical urinary cytology which were missed on routine examination and were further proved on histopathology as transitional cell carcinoma (TCC of bladder. The cytological features of these cases were compared with 10 cases of benign urine samples. Results There were 11 cases of high grade TCC and 7 cases of low grade TCC on histopathology of the atypical urine samples. Necrosis in the background and necrosed papillae were mostly seen in malignant atypical cells. The comet cells and cells with India ink nuclei (single cells with deep black structure-less nuclei were only observed in malignant atypical cells. The most consistent features in malignant atypical cells were: i high nuclear and cytoplasmic (N/C ratio ii nuclear pleomorphism iii nuclear margin irregularity iv hyperchromasia and v chromatin abnormalities Conclusion The present study emphasizes that nuclear features such as high N/C ratio, hyperchromasia and chromatin abnormalities are particularly useful for assessing the malignant atypical cells. Other cytological features such as comet cells and cells with India ink nuclei are also helpful for diagnosis but have limited value because they are less frequently seen.

  7. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang

    2006-03-01

    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  8. Atypical lymphocytosis in leptospirosis: a cohort of hospitalized cases between 1996 and 2009 in State of Rio de Janeiro, Brazil

    Directory of Open Access Journals (Sweden)

    Paulo Vieira Damasco

    2011-10-01

    Full Text Available INTRODUCTION: Leptospirosis is a zoonotic disease found in tropical and temperate countries, and its clinical diagnostic confusion with arboviruses (dengue fever, oropouche fever and yellow fever, Brazilian spotted fever, viral hepatitis and hantaviruses has been an ongoing public health concern. The aim of this observational study was to demonstrate an association between findings of atypical lymphocytosis and the progression of endemic leptospirosis. METHODS: A retrospective analysis was performed on the demographic, epidemiological, clinical and laboratory aspects of 27 human leptospirosis cases that occurred over a period of 13 years (1996-2009 with no reported epidemic outbreaks in Rio de Janeiro, Brazil. RESULTS: The overall mortality rate was 11.1% in our cohort of hospitalized cases. However, there was no mortality among patients with atypical lymphocytosis (OR = 11.1; 95% CI = 1.12-110.9; p = 0.04. Two patients who were in the septicemic phase showed signs of expansion of γδ T cell responses in peripheral blood. CONCLUSIONS: Atypical lymphocytosis may be observed in patients with leptospirosis. Our observations suggest that these atypical leukocyte subsets are associated with partial protection during the disease course of leptospirosis.

  9. [The modern concept of atypical depression: four definitions].

    Science.gov (United States)

    Ohmae, Susumu

    2010-01-01

    This report describes and compares four current concepts and definitions of atypical depression. Since its emergence, atypical depression has been considered a depressive state that can be relieved by MAO inhibitors. Davidson classified the symptomatic features of atypical depression into type A, which is predominated by anxiety symptoms, and type V, which is represented by atypical vegetative symptoms, such as hyperphagia, weight gain, oversleeping, and increased sexual drive. Features that are shared by both subtypes include: early onset, female predominance, outpatient predominance, mildness, few suicide attempts, nonbipolarity, nonendogeneity, and few psychomotor changes. Based on these features, bipolar depression can also be defined as atypical depression type V. Herein, we examine and classify four concepts of atypical depression according to the endogenous-nonendogenous (melancholic-nonmelancholic) and unipolar-bipolar dichotomies. The Columbia University group (see Quitkin, Stewart, McGrath, Klein et al.) and the New South Wales University group (see Parker) consider atypical depression to be chronic, mild, nonendogenous (nonmelancholic), unipolar depression. The former group postulates that mood reactivity is necessary, while the latter asserts the structural priority of anxiety symptoms over mood symptoms and the significance of interpersonal rejection sensitivity. For the Columbia group, the significance of mood reactivity reflects the theory that mood nonreactivity is the essential symptom of "endogenomorphic depression", which was proposed by Klein as typical depression. Thus, mood reactivity is not related to overreactivity or hyperactivity, which are often observed in atypical depressives. However, Parker postulates that psychomotor symptoms are the essential features of melancholia, which he recognizes as typical depression; therefore, the New South Wales group does not recognize the significance of mood reactivity. The New South Wales group

  10. Scirrhous hepatocellular carcinoma displaying atypical findings on imaging studies

    Institute of Scientific and Technical Information of China (English)

    Soo Ryang Kim; Susumu Imoto; Taisuke Nakajima; Kenji Ando; Keiji Mita; Katsumi Fukuda; Ryo Nishikawa; Yu-ichiro Koma; Toshiyuki Matsuoka; Masatoshi Kudo; Yoshitake Hayashi

    2009-01-01

    We describe a 15-mm scirrhous hepatocellular carcinoma (HCC) in a 60-year-old man with B-type cirrhosis. Ultrasound disclosed a 15-mm hypoechoic nodule in segment 7. Contrast-enhanced US revealed heterogeneous, not diffuse, hypervascularity in the early phase and a defect in the Kupffer phase. Contrast-enhanced computed tomography (CT) revealed a heterogeneous hypervascular nodule in the early phase and a low-density area in the late phase. Magnetic resonance imaging (MRI) revealed iso- to hypointensity at T1 and high intensity at T2-weighted sequences. Contrast-enhanced MRI also revealed a heterogeneous hypervascular nodule in the early phase and washout in the late phase. Super-paramagnetic iron oxide-MRI revealed a hyperintense nodule. CT during hepatic arteriography and CT during arterial portography revealed heterogeneous hyperattenuation and a perfusion defect, respectively. Based on these imaging findings the nodule was diagnosed as a mixed well-differentiated and moderately-differentiated HCC. Histologically, the nodule was moderately-differentiated HCC characterized by typical cytological and structural atypia with dense fibrosis. Immunohistochemically, the nodule was positive for heterochromatin protein 1 and alpha-smooth muscle actin, and negative for cytokeratin 19. From the above findings, the nodule was diagnosed as scirrhous HCC. Clinicians engaged in hepatology should exercise caution with suspected scirrhous HCC when imaging studies reveal atypical findings, as shown in our case on the basis of chronic liver disease.

  11. 123I-IMP SPECT studies in schizophrenia and atypical psychosis

    International Nuclear Information System (INIS)

    According to the classification of Mitsuda, 23 patients with endogenous psychosis aged 40 years or younger, presenting with hallucination and delusion, were classified as having schizophrenia (n=12) or atypical psychosis (n=11). These patients were studied by single photon emission computed tomography (SPECT) with N-isopropyl-p-I-123-iodoamphetamine (I-123 IMP). Sixteen healthy persons served as controls. Early and delayed SPECT images were obtained 30 min and 4 hr, respectively, after intravenous injection of I-123 IMP. The group of schizophrenic patients had markedly decreased uptake of I-123 in the basal ganglia, as well as the right temporal and left occipital areas on both early and delayed images. In the group of atypical psychosis patients, however, decreased uptake of I-123 was noted in both the right basal ganglia and left occipital area on early images, but none of such findings were seen on delayed images. Regarding the uptake ratio in the frontal area on both early and delayed images, there were significant differences between the two groups. These findings have important implications for the different etiology of both disease types: not only functional disturbance in the frontal area but also irreversible changes may be involved in the occurrence of schizophrenia, and functional disturbance particularly in the right basal ganglia may be involved in the occurrence of atypical psychosis. (N.K.)

  12. Tuberous sclerosis: Analysis of 24 cases with emphasis on atypical findings

    International Nuclear Information System (INIS)

    We retrospectively analysed the clinical and CT findings of 24 cases with tuberous sclerosis with special emphasis upon the atypical presentation. The cases with classic clinical triad were accounted for in 21%, while 33% presented with atypical clinical features. The most common and characteristic CT finding is that of the subependymal calcified nodules of the lateral ventricle, which was seen in 85% of our cases. Cortical tuber and white matter lesions were demonstrated in 65% and 55%, respectively. Three cases showed cortical tuber and white matter lesion without subependymal tuber. The cortical tuber usually exhibited low density or calcified lesion, but showed high density in 2 cases. Other findings of tuberous sclerosis included intraventricular tumor, ventriculomegaly, and cortical atrophy. One case clearly demonstrated parenchymal tuber on MR imaging. In conclusion, diagnosis of tuberous sclerosis is usually made on the clinical bases initially. However, CT and MR are also diagnostic even in unusual clinical presentation such as unexplained retardation or epilepsy or when the classic clinical triad is incomplete. If only cortical tuber or white matter lesion is present, it is difficult to diagnose tuberous sclerosis and to differentiate from other cortical mass lesion. Therefore, careful evaluation is required with familiarity with the atypical appearance of the disease

  13. The genome of Chelonid herpesvirus 5 harbors atypical genes

    Science.gov (United States)

    Ackermann, Mathias; Koriabine, Maxim; Hartmann-Fritsch, Fabienne; de Jong, Pieter J.; Lewis, Teresa D.; Schetle, Nelli; Work, Thierry M.; Dagenais, Julie; Balazs, George H.; Leong, Jo-Ann C.

    2012-01-01

    The Chelonid fibropapilloma-associated herpesvirus (CFPHV; ChHV5) is believed to be the causative agent of fibropapillomatosis (FP), a neoplastic disease of marine turtles. While clinical signs and pathology of FP are well known, research on ChHV5 has been impeded because no cell culture system for its propagation exists. We have cloned a BAC containing ChHV5 in pTARBAC2.1 and determined its nucleotide sequence. Accordingly, ChHV5 has a type D genome and its predominant gene order is typical for the varicellovirus genus within thealphaherpesvirinae. However, at least four genes that are atypical for an alphaherpesvirus genome were also detected, i.e. two members of the C-type lectin-like domain superfamily (F-lec1, F-lec2), an orthologue to the mouse cytomegalovirus M04 (F-M04) and a viral sialyltransferase (F-sial). Four lines of evidence suggest that these atypical genes are truly part of the ChHV5 genome: (1) the pTARBAC insertion interrupted the UL52 ORF, leaving parts of the gene to either side of the insertion and suggesting that an intact molecule had been cloned. (2) Using FP-associated UL52 (F-UL52) as an anchor and the BAC-derived sequences as a means to generate primers, overlapping PCR was performed with tumor-derived DNA as template, which confirmed the presence of the same stretch of “atypical” DNA in independent FP cases. (3) Pyrosequencing of DNA from independent tumors did not reveal previously undetected viral sequences, suggesting that no apparent loss of viral sequence had happened due to the cloning strategy. (4) The simultaneous presence of previously known ChHV5 sequences and F-sial as well as F-M04 sequences was also confirmed in geographically distinct Australian cases of FP. Finally, transcripts of F-sial and F-M04 but not transcripts of lytic viral genes were detected in tumors from Hawaiian FP-cases. Therefore, we suggest that F-sial and F-M04 may play a role in FP pathogenesis

  14. [Apropos of atypical melancholia with Sustiva (efavirenz)].

    Science.gov (United States)

    Lang, J P; Halleguen, O; Picard, A; Lang, J M; Danion, J M

    2001-01-01

    The treatment of HIV infection has changed dramatically in recent years as a result of the development of new drugs which allows a variety of multitherapy combinations more adapted to patients' needs and thereby improving compliance. Efavirenz is a non-nucleoside reverse transcriptase inhibitor. In addition to a potent antiretroviral activity, efavirenz is an easy-to-take drug with once-daily dosing and is usually well tolerated. Efavirenz, however, may induce psychic alterations which are variable and atypical in both their clinical presentation and severity. As early as the first days of treatment, efavirenz may provoke surprising phenomena such as nightmares, vivid dreams, hallucinations or illusions, and twilight states. Depersonalization and derealization episodes, personality alterations, stream of thought troubles and unusual thought contents, atypical depression and cognitive disorders have also been observed. These phenomena may occur either early or later on treatment. The prevalence of severe psychic disorders is less than 5%, but they are often responsible for harmful treatment discontinuations. Psychiatric side effects are heterogeneous and probably not related to pre-existing psychologic weakness. We do not have enough data to evaluate these side effects and their etiopathogeny. The drug could act directly on the central nervous system since it crosses the blood-brain barrier, on the serotoninergic and dopaminergic systems. Some authors have compared efavirenz-induced psychic effects to those associated with LSD and found structural similarities between the two molecules. However, the heterogeneity and low prevalence of the psychiatric side effects of efavirenz suggest and individual sensitivity. In order to improve patient care, a better clinical approach, neuropsychological evaluation, and functional brain imagery should be used to progress in the analysis and comprehension of these disorders. We discuss in this paper the case of Mister H. This HIV

  15. Serum level of C-reactive protein is not a parameter to determine the difference between viral and atypical bacterial infections.

    Science.gov (United States)

    Durán, Anyelo; González, Andrea; Delgado, Lineth; Mosquera, Jesús; Valero, Nereida

    2016-02-01

    C-reactive protein (CRP) is an acute-phase reactant that increases in the circulation in response to a variety of inflammatory stimuli. Elevated levels in serum during several infectious diseases have been reported. In this study, a highly sensitive CRP enzyme immunoassay was used to evaluate serum CRP values in patients with viral and atypical bacterial infections. Patients (n = 139) with different viral or atypical bacterial infections (systemic or respiratory) and healthy controls (n = 40) were tested for circulating CRP values. High levels of IgM antibodies against several viruses: Dengue virus (n = 36), Cytomegalovirus (n = 9), Epstein Barr virus (n = 17), Parvovirus B19 (n = 26), Herpes simplex 1 and 2 virus (n = 3) and Influenza A and B (n = 8) and against atypical bacteria: Legionella pneumophila (n = 15), Mycoplasma pneumoniae (n = 21) and Coxiella burnetii (n = 4) were found. High values of CRP in infected patients compared with controls (P < 0.001) were found; however, no significant differences between viral and atypical bacterial infections were found. Low levels of CRP in respiratory and Coxiella burnetii infections compared with exanthematic viral and other atypical bacterial infections were found. This study suggests that CRP values are useful to define viral and atypical bacterial infections compared with normal values, but, it is not useful to define type of infection. PMID:26241406

  16. Acute rhabdomyolysis associated with atypical Guillain-Barré syndrome.

    OpenAIRE

    Scott, A. J.; Duncan, R; Henderson, L.; Jamal, G A; Kennedy, P G

    1991-01-01

    We report a patient with atypical Guillain-Barré syndrome associated with acute rhabdomyolysis. Rhabdomyolysis may be the cause of elevation of creatine kinase sometimes seen in patients with Guillain-Barré syndrome.

  17. Quantitative methods for somatosensory evaluation in atypical odontalgia

    DEFF Research Database (Denmark)

    Porporatti, André Luís; Costa, Yuri Martins; Stuginski-Barbosa, Juliana;

    2015-01-01

    A systematic review was conducted to identify reliable somatosensory evaluation methods for atypical odontalgia (AO) patients. The computerized search included the main databases (MEDLINE, EMBASE, and Cochrane Library). The studies included used the following quantitative sensory testing (QST...

  18. Teaching strategies for atypical presentation of illness in older adults.

    Science.gov (United States)

    Gray-Miceli, Deanna; Aselage, Melissa; Mezey, Mathy

    2010-07-01

    Atypical presentation of illness is a phenomenon where "seeing is believing." Expert geriatric nurses and clinicians know all too well the early signs and symptoms of this phenomenon, which frequently masquerades bacterial infections, pain, acute myocardial infarction, heart failure, or other serious medical ailments in older adults. Students, however, as novices to clinical practice, require interactive learning approaches to reflect on the patient's illness presentations, help with developing the necessary skills to analyze and synthesize clinically relevant data, and witness resolution of an atypical presentation when found and treated. Use of a case study as an educational tool can facilitate critical thinking about a clinical problem, such as atypical presentation of illness, for students within a problem-based learning format. Furthermore, we highlight strategies for teaching students atypical presentation of illness with consideration of student learning preferences, which include visual, auditory, reading, and kinesthetic modes of learning. PMID:20608591

  19. Atypical fibroxanthoma: An unusual skin neoplasm in xeroderma pigmentosum

    Directory of Open Access Journals (Sweden)

    Ranjana Bandyopadhyay

    2012-01-01

    Full Text Available Xeroderma pigmentosum (XP is a rare autosomal recessive disorder related to defective deoxyribonucleic acid (DNA repair. Various cutaneous manifestations related to ultraviolet (UV damage characterize the clinical course. Primary malignant cutaneous neoplasms like squamous cell carcinoma, basal cell carcinoma and malignant melanoma have been reported. Atypical fibroxanthoma is a rare dermal neoplasm occurring in UV-damaged skin. We report an unusual case of atypical fibroxanthoma in a 20-year-old male with XP.

  20. Atypical Fibroxanthoma: An Unusual Skin Neoplasm in Xeroderma Pigmentosum

    OpenAIRE

    Ranjana Bandyopadhyay; Dipanwita Nag; Sanjay Bandyopadhyay; Swapan Kumar Sinha

    2012-01-01

    Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder related to defective deoxyribonucleic acid (DNA) repair. Various cutaneous manifestations related to ultraviolet (UV) damage characterize the clinical course. Primary malignant cutaneous neoplasms like squamous cell carcinoma, basal cell carcinoma and malignant melanoma have been reported. Atypical fibroxanthoma is a rare dermal neoplasm occurring in UV-damaged skin. We report an unusual case of atypical fibroxanthoma in a 20-y...

  1. Atypical presentation of macrophagic myofasciitis 10 years post vaccination.

    LENUS (Irish Health Repository)

    Ryan, Aisling M

    2012-02-03

    Macrophagic myofasciitis (MMF) is an uncommon inflammatory disorder of muscle believed to be due to persistence of vaccine-derived aluminium hydroxide at the site of injection. The condition is characterised by diffuse myalgias, arthralgia and fatigue. We describe a patient with histologically confirmed MMF whose presentation was atypical with left chest and upper limb pain beginning more than 10 years post vaccination. Treatment with steroids led to symptomatic improvement. Although rare, clinicians should consider MMF in cases of atypical myalgia.

  2. Persistent consequences of atypical early number concepts

    Directory of Open Access Journals (Sweden)

    MichèleM. M.Mazzocco

    2013-09-01

    Full Text Available How does symbolic number knowledge performance help identify young children at risk for poor mathematics achievement outcomes? In research and practice, classification of mathematics learning disability (MLD, or dyscalculia is typically based on composite scores from broad measures of mathematics achievement. These scores do predict later math achievement levels, but do not specify the nature of math difficulties likely to emerge among students at greatest risk for long-term mathematics failure. Here we report that gaps in 2nd and 3rd graders’ number knowledge predict specific types of errors made on math assessments at Grade 8. Specifically, we show that early whole number misconceptions predict slower and less accurate performance, and atypical computational errors, on Grade 8 arithmetic tests. We demonstrate that basic number misconceptions can be detected by idiosyncratic responses to number knowledge items, and that when such misconceptions are evident during primary school they persist throughout the school age years, with variable manifestation throughout development. We conclude that including specific qualitative assessments of symbolic number knowledge in primary school may provide greater specificity of the types of difficulties likely to emerge among students at risk for poor mathematics outcomes.

  3. Atypical proliferating mucinous tumors of gigantic dimensions

    Directory of Open Access Journals (Sweden)

    Likić-Lađević Ivana

    2008-01-01

    Full Text Available Background. Ovarian tumors of low malignant potential (LMP are also known as atypically proliferating tumors. Ovarian tumors of LPM account for approximately 15% of all epithelial ovarian cancers. Mean age of occurrence is 40 years and they are 15-20 cm in diameter. Case report. A 32-year-old female patient was hospitalized as an urgent case with a large tumor mass that filled the entire abdomen. Cyst was 100 × 70 cm dimensions belonging to the right ovary and filled with 18 liters of content. Right adnexectomy, resection of the second ovary, as well as biopsy of the omentum were performed. Lymphadenectomy of the right iliac and obturator area was also performed. After receiving definitive histopathological results it was decided to perform a radical reoperation. On the 10th postoperative day relaparotomy, total hysterectomy and left adnexectomy were performed. The patient was released on the 6th postoperative day. She used to come to regular examinations up to date. Conclusion. This case is a proof that LMP tumors have low malignant potential, they grow slowly and can reach great proportions.

  4. Atypical focal nodular hyperplasia of the liver

    Institute of Scientific and Technical Information of China (English)

    Muhammad Rizwan Khan; Taimur Saleem; Tanveer Ul Haq; Kanwal Aftab

    2011-01-01

    BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

  5. Atypical mitochondrial inheritance patterns in eukaryotes.

    Science.gov (United States)

    Breton, Sophie; Stewart, Donald T

    2015-10-01

    Mitochondrial DNA (mtDNA) is predominantly maternally inherited in eukaryotes. Diverse molecular mechanisms underlying the phenomenon of strict maternal inheritance (SMI) of mtDNA have been described, but the evolutionary forces responsible for its predominance in eukaryotes remain to be elucidated. Exceptions to SMI have been reported in diverse eukaryotic taxa, leading to the prediction that several distinct molecular mechanisms controlling mtDNA transmission are present among the eukaryotes. We propose that these mechanisms will be better understood by studying the deviations from the predominating pattern of SMI. This minireview summarizes studies on eukaryote species with unusual or rare mitochondrial inheritance patterns, i.e., other than the predominant SMI pattern, such as maternal inheritance of stable heteroplasmy, paternal leakage of mtDNA, biparental and strictly paternal inheritance, and doubly uniparental inheritance of mtDNA. The potential genes and mechanisms involved in controlling mitochondrial inheritance in these organisms are discussed. The linkage between mitochondrial inheritance and sex determination is also discussed, given that the atypical systems of mtDNA inheritance examined in this minireview are frequently found in organisms with uncommon sexual systems such as gynodioecy, monoecy, or andromonoecy. The potential of deviations from SMI for facilitating a better understanding of a number of fundamental questions in biology, such as the evolution of mtDNA inheritance, the coevolution of nuclear and mitochondrial genomes, and, perhaps, the role of mitochondria in sex determination, is considerable. PMID:26501689

  6. Atypical moral judgment following traumatic brain injury

    Directory of Open Access Journals (Sweden)

    Angelica Muresan

    2012-07-01

    Full Text Available Previous research has shown an association between emotions, particularly social emotions, and moral judgments. Some studies suggested an association between blunted emotion and the utilitarian moral judgments observed in patients with prefrontal lesions. In order to investigate how prefrontal brain damage affects moral judgment, we asked a sample of 29 TBI patients (12 females and 17 males and 41 healthy participants (16 females and 25 males to judge 22 hypothetical dilemmas split into three different categories (non-moral, impersonal and personal moral. The TBI group presented a higher proportion of affirmative (utilitarian responses for personal moral dilemmas when compared to controls, suggesting an atypical pattern of utilitarian judgements. We also found a negative association between the performance on recognition of social emotions and the proportion of affirmative responses on personal moral dilemmas. These results suggested that the preference for utilitarian responses in this type of dilemmas is accompanied by difficulties in social emotion recognition. Overall, our findings suggest that deontological moral judgments are associated with normal social emotion processing and that frontal lobe plays an important role in both emotion and moral judgment.

  7. Atypical presentation of colon adenocarcinoma: a case report

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    Tumwine Lynnette K

    2012-02-01

    Full Text Available Abstract Introduction Adenocarcinoma of the colon is the most common histopathological type of colorectal cancer. In Western Europe and the United States, it is the third most common type and accounts for 98% of cancers of the large intestine. In Uganda, as elsewhere in Africa, the majority of patients are elderly (at least 60 years old. However, more recently, it has been observed that younger patients (less than 40 years of age are presenting with the disease. There is also an increase in its incidence and most patients present late, possibly because of the lack of a comprehensive national screening and preventive health-care program. We describe the clinicopathological features of colorectal carcinoma in the case of a young man in Kampala, Uganda. Case presentation A 27-year-old man from Kampala, Uganda, presented with gross abdominal distension, progressive loss of weight, and fever. He was initially screened for tuberculosis, hepatitis, and lymphoma, and human immunodeficiency virus/acquired immunodeficiency syndrome infection. After a battery of tests, a diagnosis of colorectal carcinoma was finally established with hematoxylin and eosin staining of a cell block made from the sediment of a liter of cytospun ascitic fluid, which showed atypical glands floating in abundant extracellular mucin, suggestive of adenocarcinoma. Ancillary tests with alcian blue/periodic acid Schiff and mucicarmine staining revealed that it was a mucinous adenocarcinoma. Immunohistochemistry showed strong positivity with CDX2, confirming that the origin of the tumor was the colon. Conclusions Colorectal carcinoma has been noted to occur with increasing frequency in young adults in Africa. Most patients have mucinous adenocarcinoma, present late, and have rapid disease progression and poor outcome. Therefore, colorectal malignancy should no longer be excluded from consideration only on the basis of a patient's age. A high index of suspicion is important in the

  8. Atypical sonographic patterns of fibroadenoma of the breast : pathologic correlation

    International Nuclear Information System (INIS)

    To correlate the atypical sonographic patterns of fibroadenoma of the breast with the pathologic findings. Among 203 surgically proven 43 which were sonographically atypical fibroadenomas, were retrospectively reviewed. The diagnostic criteria for atypical variety, as seen on sonography, were an ill-defined margin, microlobulated or irregular shape, heterogeneous internal echo-pattern, posterior shadowing, microcalcification, and clefts. The atypical sonographic patterns of these 43 fibroadenomas were analysed and compared with the pathologic findings. Among 43 lesions, ill-defined margins or irregular shapes were seen in 15 cases, heterogeneous internal echo-patterns in 27, posterior attenuation in nine, and clefts in seven. Thirty-seven (86%) of the 43 were predominantly ductal or had a mixed ductal and stromal component. Eleven (73.3%) of fifteen ill-defined margin or irregular shaped lesions were caused by interdigitation of surrounding normal breast parenchyma and mass. Twenty two (81.5%) of 27 heterogeneous internal echo-pat-terns were related to dilated ducts, phyllodes features, collagen bundles, adenosis, microcalcification, or fat vacuoles. Eight (88.9%) of nine posterior attenuations were caused by collagen bundles, microcalcification, ductal proliferation or dilatation. All seven cases showing clefts revealed phyllodes features and dilated ducts. Most atypical fibroadenomas had a predominantly ductal or mixed component. Ill-defined margin or irregular shape was mainly due to interdigitation of normal surrounding parenchyma. Variable histologic features were related to the heterogeneous internal echo-pattern, posterior shadowing, and the clefts revealed by atypical sonographic findings

  9. Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

    Science.gov (United States)

    Chappell, Ava G; Chase, Elizabeth P; Chang, Beverly; Cunningham, Eric; Mihm, Fred; Calame, Antoanella; Fudem, Gary; Cunningham, Bari

    2016-05-01

    Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger. PMID:27046537

  10. Detection of a human intracisternal A-type retroviral particle antigenically related to HIV

    Science.gov (United States)

    Garry, R. F.; Fermin, C. D.; Hart, D. J.; Alexander, S. S.; Donehower, L. A.; Luo-Zhang, H.

    1990-01-01

    Sjogren's syndrome is an autoimmune disease that is characterized by dryness of the mouth and eyes. The loss of salivary and lacrimal gland function is accompanied by lymphocytic infiltration. Because similar symptoms and glandular pathology are observed in certain persons infected with human immunodeficiency virus (HIV), a search was initiated for a possible retroviral etiology in this syndrome. A human intracisternal A-type retroviral particle that is antigenically related to HIV was detected in lymphoblastoid cells exposed to homogenates of salivary tissue from patients with Sjogren's syndrome. Comparison of this retroviral particle to HIV indicates that they are distinguishable by several ultrastructural, physical, and enzymatic criteria.

  11. Atypical antipsychotics in bipolar disorder: systematic review of randomised trials

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    Moore R Andrew

    2007-08-01

    Full Text Available Abstract Background Atypical antipsychotics are increasingly used for treatment of mental illnesses like schizophrenia and bipolar disorder, and considered to have fewer extrapyramidal effects than older antipsychotics. Methods We examined efficacy in randomised trials of bipolar disorder where the presenting episode was either depression, or manic/mixed, comparing atypical antipsychotic with placebo or active comparator, examined withdrawals for any cause, or due to lack of efficacy or adverse events, and combined all phases for adverse event analysis. Studies were found through systematic search (PubMed, EMBASE, Cochrane Library, and data combined for analysis where there was clinical homogeneity, with especial reference to trial duration. Results In five trials (2,206 patients participants presented with a depressive episode, and in 25 trials (6,174 patients the presenting episode was manic or mixed. In 8-week studies presenting with depression, quetiapine and olanzapine produced significantly better rates of response and symptomatic remission than placebo, with NNTs of 5–6, but more adverse event withdrawals (NNH 12. With mania or mixed presentation atypical antipsychotics produced significantly better rates of response and symptomatic remission than placebo, with NNTs of about 5 up to six weeks, and 4 at 6–12 weeks, but more adverse event withdrawals (NNH of about 22 in studies of 6–12 weeks. In comparisons with established treatments, atypical antipsychotics had similar efficacy, but significantly fewer adverse event withdrawals (NNT to prevent one withdrawal about 10. In maintenance trials atypical antipsychotics had significantly fewer relapses to depression or mania than placebo or active comparator. In placebo-controlled trials, atypical antipsychotics were associated with higher rates of weight gain of ≥7% (mainly olanzapine trials, somnolence, and extrapyramidal symptoms. In active controlled trials, atypical antipsychotics

  12. Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study

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    Jakóbkiewicz-Banecka Joanna

    2005-05-01

    Full Text Available Abstract Background Mucopolysaccharidoses are heritable, metabolic diseases caused by deficiency in an activity of one of specific lysosomal enzymes involved in degradation of mucoplysaccharides (glycosaminoglycans. Among many medical problems of patients with mucopolysaccharidoses, there are frequent episodes of diarrhea of unknown etiology. Case presentation A girl, diagnosed enzymatically for mucopolysaccharidosis type I (deficiency of α-L-iduronidase at the age of 3 years and 9 months, was investigated until the age of 5 years and 4 months. Frequent loose stools and episodes of diarrhea, often accompanied by vomiting, were encountered. Detailed microbiological analyses were performed and atypical microbial infections (most often enetropathogenic Escherichia coli, but also other species, like Pseudomonas aeruginosa or Staphylococcus aureus, as well as adenoviruses of the digestive tract were found in most severe diarrhea episodes. Often, isolations of pathogenic bacterial strains from stools of the investigated patient suffering from diarrhea were not obvious during the first screening, and only detailed microbiological studies, including re-isolation of colonies, gave the results of isolation of particular pathogenic strains (especially in the case of enetropathogenic E. coli. Conclusion We conclude that atypical microbial infections of digestive tract may contribute significantly to diarrhea in mucopolysaccaridosis patients. Since isolated strains were not typical and their isolation was often possible only after detailed investigation (not during a standard screening, such atypical microbial infections of digestive tract of mucopolysaccharidosis patients could be usually overlooked to date. Importantly, these atypical infections could be effectively treated with antimicrobial agents.

  13. Atypical antipsychotics in the treatment of pathological aggression in children and adolescents: literature review and clinical recommendations

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    Eduardo Henrique Teixeira

    2013-01-01

    Full Text Available Objective: To review the literature about the use of atypical antipsychotics in the treatment of pathological aggression in children and adolescents. Method: The databases MEDLINE, SciELO, and LILACS were searched for publications in Portuguese or English from 1992 to August 2011 using the following keywords: mental disease, child, adolescent, treatment, atypical antipsychotic, aggressive behavior, aggression, and violent behavior. Results: Sixty-seven studies of good methodological quality and clinical interest and relevance were identified. Studies including children and adolescents were relatively limited, because few atypical antipsychotics have been approved by the Food and Drug Administration (FDA. All the medications included in this review (risperidone, olanzapine, quetiapine, ziprasidone, aripiprazole and clozapine have some effectiveness in treating aggression in children and adolescents, and choices should be based on clinical indications and side effects. Conclusions: There are few studies about the effectiveness and safety of atypical antipsychotics for the pediatric population, and further randomized controlled studies with larger groups of patients and more diagnostic categories, such as severe conduct disorder and oppositional defiant disorder, should be conducted to confirm the results reported up to date and to evaluate the impact of long-term use.

  14. The usefulness of SPECT and MRI in the diagnosis of atypical parkinsonian syndromes

    International Nuclear Information System (INIS)

    Clinico-pathological studies have shown that only three out of four patients with parkinsonism have idiopathic Parkinson's disease. In patients with so-called Parkinson plus syndrome, the degeneration in the brain is more widespread and the variety of neurological signs greater than in Parkinson's disease. The differentiation of these syndromes from Parkinson's disease can be difficult. Single photon emission computed tomography (SPECT) and magnetic resonance imaging (MRl) can be of value in the differential diagnosis of parkinsonism. We present three patients with atypical parkinsonism in whom MRI and SPECT with β-CIT and epidepride was performed in addition to the clinical evaluation. The three patients all had a rapidly developing symmetric akinetic-rigid syndrome that responded poorly to levodopa. MRI showed findings regarded as typical for multiple system atrophy in two patients, but only nonspecific findings in the third patient. SPECT with β-CIT showed a pronounced bilateral and relatively symmetric reduction in the striatal dopaminergic activity in all patients. SPECT with epidepride showed a clearly reduced striatal D2-receptor binding bilaterally in only one of the patients. In patients with atypical parkinsonism, MRI and SPECT with β-CIT and epidepride can give valuable support to the clinical diagnosis of a Parkinson plus syndrome

  15. Atypical presentation of pioderma gangrenosum complicating ulcerative colitis:Rapid disappearance with methylprednisolone

    Institute of Scientific and Technical Information of China (English)

    Paolo Aseni; Stefano Di Sandro; Plamen Mihaylov; Luca Lamperti; Luciano Gregorio De Cadis

    2008-01-01

    Piodermal gangrenosum (PG) is an uncommon ulcerative cutaneous dermatosis associated with a variety of systemic diseases,including inflammatory bowel disease (IBD),arthritis,leukaemia,hepatitis,and primary billiary cirrhosis.Other cutaneous ulceration resembling PG had been described in literature.There has been neither laboratory finding nor histological feature diagnostic of PG,and diagnosis of PG is mainly made based on the exclusion criteria.We present here a patient,with ulcerative colitis (UC)who was referred to the emergency section with a large and rapidly evolving cutaneous ulceration.Laboratory and microbiological investigation associated with histological findings of the ulcer specimen allowed us to exclude autoimmune and systemic diseases as well as immuno-proliferative disorders.An atypical presentation of PG with UC was diagnosed.Pulse boluses of i.v.methyl-prednisolone were started,and after tapering steroids,complete resolution of the skin lesion was achieved in 3 wk.The unusual rapid healing of the skin ulceration with steroid mono-therapy and the atypical cutaneous presentation in this patient as well as the risk of misdiagnosis of PG in the clinical practice were discussed.

  16. Symptomatic atypical femoral fractures are related to underlying hip geometry.

    Science.gov (United States)

    Taormina, David P; Marcano, Alejandro I; Karia, Raj; Egol, Kenneth A; Tejwani, Nirmal C

    2014-06-01

    The benefits of bisphosphonates are well documented, but prolonged use has been associated with atypical femur fractures. Radiographic markers for fracture predisposition could potentially aid in safer medication use. In this case-control designed study, we compared hip radiographic parameters and the demographic characteristics of chronic bisphosphonate users who sustained an atypical femoral fracture with a group of chronic bisphosphonate users who did not sustain an atypical femur fracture and also a group who sustained an intertrochanteric hip fracture. Radiographic parameters included were neck-shaft angle (NSA), hip-axis length (HAL) and center-edge angle (CE). Multivariate regression was used to evaluate the relationship between radiographic measures and femur fracture. Receiver-operating characteristic analysis determined cut-off points for neck-shaft angle and risk of atypical femur fracture. Ultimately, pre-fracture radiographs of 53 bisphosphonate users who developed atypical fracture were compared with 43 asymptomatic chronic bisphosphonate users and 64 intertrochanteric fracture patients. Duration of bisphosphonate use did not statistically differ between users sustaining atypical fracture and those without fracture (7.9 [±3.5] vs. 7.7 [±3.3] years, p=0.7). Bisphosphonate users who fractured had acute/varus pre-fracture neck-shaft angles (p<0.001), shorter hip-axis length (p<0.01), and narrower center-edge angles (p<0.01). Regression analysis revealed associations between neck-shaft angle (OR=0.89 [95% CI=0.81-0.97; p=0.01), center edge angle (OR=0.89 [95% CI=0.80-0.99]; p=0.03), and BMI (OR=1.15 [95% CI=1.02-1.31; p=0.03) with fracture development. ROC curve analysis (AUC=0.67 [95% CI=0.56-0.79]) determined that a cut-off point for neck-shaft angle <128.3° yielded 69% sensitivity and 63% specificity for development of atypical femoral fracture. Ultimately, an acute/varus angle of the femoral neck, high BMI, and narrow center-edge angle were

  17. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

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    Julian P Venables

    2006-10-01

    Full Text Available BACKGROUND: Sequence analysis of the regulators of complement activation (RCA cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity between the gene for factor H (CFH and the genes for the five factor H-related proteins (CFHL1-5; aliases CFHR1-5. CFH mutations have been described in association with atypical haemolytic uraemic syndrome (aHUS. The majority of the mutations are missense changes that cluster in the C-terminal region and impair the ability of factor H to regulate surface-bound C3b. Some have arisen as a result of gene conversion between CFH and CFHL1. In this study we tested the hypothesis that nonallelic homologous recombination between low-copy repeats in the RCA cluster could result in the formation of a hybrid CFH/CFHL1 gene that predisposes to the development of aHUS. METHODS AND FINDINGS: In a family with many cases of aHUS that segregate with the RCA cluster we used cDNA analysis, gene sequencing, and Southern blotting to show that affected individuals carry a heterozygous CFH/CFHL1 hybrid gene in which exons 1-21 are derived from CFH and exons 22/23 from CFHL1. This hybrid encodes a protein product identical to a functionally significant CFH mutant (c.3572C>T, S1191L and c.3590T>C, V1197A that has been previously described in association with aHUS. CONCLUSIONS: CFH mutation screening is recommended in all aHUS patients prior to renal transplantation because of the high risk of disease recurrence post-transplant in those known to have a CFH mutation. Because of our finding it will be necessary to implement additional screening strategies that will detect a hybrid CFH/CFHL1 gene.

  18. Whole Blood Gene Expression Profiling in Preclinical and Clinical Cattle Infected with Atypical Bovine Spongiform Encephalopathy

    Science.gov (United States)

    Xerxa, Elena; Barbisin, Maura; Chieppa, Maria Novella; Krmac, Helena; Vallino Costassa, Elena; Vatta, Paolo; Simmons, Marion; Caramelli, Maria; Casalone, Cristina; Corona, Cristiano

    2016-01-01

    Prion diseases, such as bovine spongiform encephalopathies (BSE), are transmissible neurodegenerative disorders affecting humans and a wide variety of mammals. Variant Creutzfeldt-Jakob disease (vCJD), a prion disease in humans, has been linked to exposure to BSE prions. This classical BSE (cBSE) is now rapidly disappearing as a result of appropriate measures to control animal feeding. Besides cBSE, two atypical forms (named H- and L-type BSE) have recently been described in Europe, Japan, and North America. Here we describe the first wide-spectrum microarray analysis in whole blood of atypical BSE-infected cattle. Transcriptome changes in infected animals were analyzed prior to and after the onset of clinical signs. The microarray analysis revealed gene expression changes in blood prior to the appearance of the clinical signs and during the progression of the disease. A set of 32 differentially expressed genes was found to be in common between clinical and preclinical stages and showed a very similar expression pattern in the two phases. A 22-gene signature showed an oscillating pattern of expression, being differentially expressed in the preclinical stage and then going back to control levels in the symptomatic phase. One gene, SEL1L3, was downregulated during the progression of the disease. Most of the studies performed up to date utilized various tissues, which are not suitable for a rapid analysis of infected animals and patients. Our findings suggest the intriguing possibility to take advantage of whole blood RNA transcriptional profiling for the preclinical identification of prion infection. Further, this study highlighted several pathways, such as immune response and metabolism that may play an important role in peripheral prion pathogenesis. Finally, the gene expression changes identified in the present study may be further investigated as a fingerprint for monitoring the progression of disease and for developing targeted therapeutic interventions. PMID

  19. Atypical Findings of Guillain-Barré Syndrome in Children

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    Parvaneh KARIMZADEH

    2013-01-01

    Full Text Available How to cite this article: Karimzadeh P, Bakhshandeh Bali MK, Nasehi MM, Taheri Otaghsara SM, Ghofrani M. Atypical Findings of Guillain-Barré Syndrome in Children. Iran J Child Neurol Autumn 2012;6(4:17-22. AbstractObjectiveGuillain-Barre syndrome (GBS is an immune-mediated polyneuropathy that occurs mostly after  prior infection. The diagnosis of this syndrome is dependent heavily on the history and examination, although cerebrospinal fluid analysis and electrodiagnostic testing usually confirm the diagnosis. This is a retrospective study which was performed to investigate the atypical features of GBS.Materials & MethodsThirty three patients (21/63.6% males and 12/36.4% females with GBS were retrospectively studied and prospectively evaluated at the Child Neurology institute of Mofid Children Hospital of Shahid Beheshti University of Medical Sciences between May 2011 and September 2012.ResultsThe mean age was 5.4 years (range, 1.5-10.5.Twenty one patients (87.9 % had previous history of infections. Eight patients (24.2% admitted with atypical symptoms like upper limb weakness (3%, ptosis (3%, neck stiffness (3%, inability to stand (proximal weakness (9.1%, headache (3% and dysphagia (3%.According to disease process, weakness was ascending in 26 (78.8%, descending in 5 (15.2% and static in 2 (6.1% patients. Cranial nerve involvement was found in 8(24.3% children, most commonly as facial palsy in 3 (9.1%.ConclusionIn this study, 24.3% of our patients presented with atypical symptoms of GBS as upper limb weakness, ptosis, neck stiffness, inability to stand (proximal weakness, headache and dysphagia References:Hughes RA, Cornblath DR. Guillain-Barré syndrome. Lancet. 2005 Nov 5;366(9497:1653-66.McGillicuddy DC, Walker O, Shapiro NI, Edlow JA. Guillain-Barré syndrome in the emergency department. Ann Emerg Med. 2006 Apr;47(4:390-3.Cosi V, Versino M. Guillain-Barré syndrome. Neurol Sci. 2006;27(Suppl 1:S47-51.Hughes RA, Cornblath DR. Guillain

  20. Psychiatric syndromes associated with atypical chest pain

    OpenAIRE

    Nikolić Gordana; Tasić Ivan; Manojlović Snežana; Samardžić Ljiljana; Tošić Suzana; Ćirić Zoran

    2010-01-01

    Background/Aim. Chest pain often indicates coronary disease, but in 25% of patients there is no evidence of ischemic heart disease using standard diagnostic tests. Beside that, cardiologic examinations are repeated several times for months. If other medical causes could not be found, there is a possibility that chest pain is a symptom of psychiatric disorder. The aim of this study was to determine the presence of psychiatric syndromes, increased somatization, anxiety, stress life events expos...

  1. The Role of Calprotectin in Pediatric Disease

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    George Vaos

    2013-01-01

    Full Text Available Calprotectin (CP is a calcium- and zinc-binding protein of the S100 family expressed mainly by neutrophils with important extracellular activity. The aim of the current review is to summarize the latest findings concerning the role of CP in a diverse range of inflammatory and noninflammatory conditions among children. Increasing evidence suggests the implication of CP in the diagnosis, followup, assessment of relapses, and response to treatment in pediatric pathological conditions, such as inflammatory bowel disease, necrotizing enterocolitis, celiac disease, intestinal cystic fibrosis, acute appendicitis, juvenile idiopathic arthritis, Kawasaki disease, polymyositis-dermatomyositis, glomerulonephritis, IgA nephropathy, malaria, HIV infection, hyperzincemia and hypercalprotectinemia, and cancer. Further studies are required to provide insights into the actual role of CP in these pathological processes in pediatrics.

  2. Atypical femur fractures associated with bisphosphonates: from prodrome to resolution

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    Braulio Sastre-Jala

    2015-10-01

    Full Text Available Atypical fractures related to the prolonged use of bisphosphonates are caused by low energy mechanisms and are characterized by oblique and transverse lines and frequent bilateralism. We present a clinical case of a patient who we believe illustrates, both in clinical and radiological aspects, the new definition of atypical femur fracture related to treatment using bisphosphonates treated conservatively and successfully with discharge and teriparatide 20 mcg/80 mcl s.c./24h. The appearance of painful symptoms in the upper thigh, especially if bilateral, in patients treated with bisphosphonates for long periods of time, makes it necessary to dismiss bone lesions that might otherwise suggest atypical fracture. In those cases where the fracture is incomplete, restoring bone metabolism through the administration of teriparatide 20 mcg/80 mcl s.c./24h could prevent displaced fractures.

  3. Atypical language representation in children with intractable temporal lobe epilepsy.

    Science.gov (United States)

    Maulisova, Alice; Korman, Brandon; Rey, Gustavo; Bernal, Byron; Duchowny, Michael; Niederlova, Marketa; Krsek, Pavel; Novak, Vilem

    2016-05-01

    This study evaluated language organization in children with intractable epilepsy caused by temporal lobe focal cortical dysplasia (FCD) alone or dual pathology (temporal lobe FCD and hippocampal sclerosis, HS). We analyzed clinical, neurological, fMRI, neuropsychological, and histopathologic data in 46 pediatric patients with temporal lobe lesions who underwent excisional epilepsy surgery. The frequency of atypical language representation was similar in both groups, but children with dual pathology were more likely to be left-handed. Atypical receptive language cortex correlated with lower intellectual capacity, verbal abstract conceptualization, receptive language abilities, verbal working memory, and a history of status epilepticus but did not correlate with higher seizure frequency or early seizure onset. Histopathologic substrate had only a minor influence on neuropsychological status. Greater verbal comprehension deficits were noted in children with atypical receptive language representation, a risk factor for cognitive morbidity. PMID:27064828

  4. EPR dosimetry with synthetic A-type carbonated apatite

    International Nuclear Information System (INIS)

    Synthetic A-type carbonated apatite prepared in reproducible conditions were irradiated at room temperature with 60 Co γ rays. The EPR spectrum is associated to axial CO2- and orthorhombic CO3- species. Radicals used as dose marker in biological apatite are long live paramagnetic species. The stability of the post-irradiation signal of A-type apatite was investigated for more than one year. Measurements showed variations in the spectra attributed to unstable CO3- species, which can be eliminated by thermal treatments at 100 deg C for 24 hours. The CO2- spectrum can be identified in samples irradiated up to 0.2 Gy. All results indicate the A-type apatite as an appropriate material for radiotherapy dosimetry. (author)

  5. Atypical pyoderma gangrenosum in a patient with osteomyelofibrosis

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    Živanović Dubravka

    2007-01-01

    Full Text Available Background. Atypical forms of pyoderma gangrenosum generally appear on the upper extremities; most frequently they are associated with myeloproliferative disorders, including osteomyelofibrosis. A response to systemic steroids is more pronounced than in classical form. Sometimes it may be the first sign of an underlying malignancy. Case report. We reported a patient with atypical pyoderma gangrenosum developed during the course of a myeloid malignancy - osteomyelofibrosis. The lesions occurred after a minor trauma. Painful blistering plaques, with an elevated, bluish-gray border were located on the dorsal aspect of hands. No skin malignancy was found. The lesions resolved rapidly to systemic steroids. Conclusion. Considering the unusual clinical presentation which makes the diagnosis difficult, as well as the fact that atypical forms of pyoderma gangrenosum can be the first sign of malignancies, especially myeloproliferative ones, recognizing this entity enables timely guiding future investigations toward their prompt detection.

  6. Gender-Atypical Mental Illness as Male Gender Threat.

    Science.gov (United States)

    Michniewicz, Kenneth S; Bosson, Jennifer K; Lenes, Joshua G; Chen, Jason I

    2016-07-01

    The present study examined whether men view gender-atypical (i.e., feminine) psychological disorders as threats to their gender status. Men and women (N = 355) rated their expectations of gender status loss, feelings of distress, and help-seeking intentions in response to 10 different stereotypically masculine and feminine psychological disorders. Men as compared to women expected greater gender status loss for, and reported more distress to, gender-atypical versus gender-typical disorders. Expectations of gender status loss partially mediated the link between participant gender and distress at the thought of gender-atypical disorders. These findings suggest that feminine disorders pose more powerful gender status threats for men than masculine disorders do and that men's expectations of gender status loss for feminine disorders drive their negative reactions to these mental illnesses. The discussion emphasizes the importance of considering the gender-typicality of disorders, and the implications of these findings for clinical interventions. PMID:25595020

  7. Computerized tomography findings on schizophrenia and atypical psychosis

    International Nuclear Information System (INIS)

    The brain CTs of 54 endogenous psychotics (27 males, 27 females) who were less than 40 years of age and were first adimitted in Aichi Medical University from 1982 to 1986, and 20 controls (10 males, 10 females) were examined. Using Mitsuda's classification, we devided all the cases into 29 schizophrenics (18 males, 11 females) and 25 atypical psychotics (9 males, 16 females). In order to investigate the differences of CT findings between the two patient groups, the 3rd ventricle index (the ratio of 3rd ventricle width to the internal diameter of the skull), Evans'ratio, lateral ventricle brain ratio (VBR), Sylvian fissure to brain ratio, 4th ventricle to cerebellum ratio were determined. Schizophrenics had larger 3rd and lateral ventricles as well as Sylvian fissures when compared to controls, but atypical psychotics had not. Moreover, schizophrenics had larger 3rd and lateral ventricle than atypical psychotics. But in widths of Sylvian fissures there was no statistical significant difference between the two groups. Ventricle enlargements of schizophrenics did not correlate with duration of illness as well as age, and were not results of prior psychiatric treatment such as medication and EST. Therefore the following is suggested that, this abnormal CT findings predate the onset of schizophrenic psychoses. In atypical psychotics the changes of Sylvian fissures correlated with duration of illness, but not with age. Such observations may possibly suggest that recurrence of the illness might finally attain irreversible changes even in atypical psychotics. Finally, the heterogeneity of schizophrenia and the independence of atypical psychosis were also discussed. (author) 53 refs

  8. Circulating thymus and activation-regulated chemokine/CC chemokine ligand 17 is a strong candidate diagnostic marker for interstitial lung disease in patients with malignant tumors: a result from a pilot study

    OpenAIRE

    Yamane H; Ochi N; Yamagishi T; Honda Y; Takeyama M; Takigawa N

    2015-01-01

    Hiromichi Yamane, Nobuaki Ochi, Tomoko Yamagishi, Yoshihiro Honda, Masami Takeyama, Nagio TakigawaDepartment of General Internal Medicine 4, Kawasaki Medical School, Kita-ku, Okayama, JapanIntroduction: Serum Krebs von den Lungen-6 (KL-6) level is an established diagnostic marker of interstitial lung disease (ILD). However, it is also elevated in patients with non-small cell lung cancer (NSCLC). The significance of circulating thymus and activation-regulated chemokine (TARC)/CC chemokine liga...

  9. 78 FR 15368 - Agency Forms Undergoing Paperwork Reduction Act Review

    Science.gov (United States)

    2013-03-11

    ... (CJD), Cyclosporiasis, Dengue, Hantavirus, Kawasaki Syndrome, Legionellosis, Lyme disease, Malaria... 55 182 15/60 Epidemiologist Hantavirus 46 3 20/60 Epidemiologist Kawasaki Syndrome....... 55 8...

  10. Nodular lymphocyte-predominant hodgkin lymphoma with atypical T cells: a morphologic variant mimicking peripheral T-cell lymphoma.

    Science.gov (United States)

    Sohani, Aliyah R; Jaffe, Elaine S; Harris, Nancy Lee; Ferry, Judith A; Pittaluga, Stefania; Hasserjian, Robert P

    2011-11-01

    Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is a distinct Hodgkin lymphoma subtype composed of few neoplastic lymphocyte-predominant (LP) cells in a background of reactive small B and T cells. We have seen occasional NLPHL cases that contain background T cells with prominent cytologic atypia, raising the differential diagnosis of peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) or a composite lymphoma. We sought to characterize the clinicopathologic features of such cases. Eleven NLPHL cases with atypical T cells diagnosed from 1977 to 2010 were identified at 2 institutions and compared with 24 control NLPHL cases lacking atypical T cells. All 9 male patients and 2 female patients presented with localized peripheral lymphadenopathy. In comparison with control patients, they were younger (median age, 13.8 vs. 36.1 y; P=0.015), with more frequent cervical lymph node involvement (54.5% vs. 8.3%, P=0.015). In all 11 cases, areas of NLPHL with typical B-cell-rich nodules containing LP cells were present. Nine cases contained sheets of atypical T cells surrounding primary and secondary follicles in a pattern mimicking the T-zone pattern of PTCL-NOS; the remaining 2 cases contained atypical T cells presented as large clusters at the periphery of B-cell-rich nodules. In all cases, the atypical T-cell-rich areas contained rare scattered LP cells, which were IgD in 5 of 7 cases (71.4%). The atypical T cells showed no pan-T-cell antigen loss or aberrant T-cell antigen expression in any case, and polymerase chain reaction or Southern blot analysis showed no evidence of T-cell clonality in 6 cases tested. The atypical T cells exhibited a variable immunophenotype with respect to germinal center, follicular T-helper, T-regulatory, and cytotoxic T-cell markers. Among 8 patients with clinical follow-up (median follow-up: 6.4 y), 5 patients had recurrent NLPHL at 6 months to 12 years after diagnosis and 6 patients are alive without disease at 9 months to 18

  11. Atmospheric concentrations of 212Pb and an observation of 212Pb originating from the 2000 eruptive activity of Miyake-jima volcano, at Kawasaki, Japan

    International Nuclear Information System (INIS)

    Atmospheric concentrations of 212Pb were observed with aerosol samples during the period from June, 1999 to December, 2000 at Kawasaki. The atmospheric concentrations of 212Pb ranged from 20 to 130 mBq/m3. Seasonal variations in 212Pb concentration showed the ''one-peak'' variation pattern: high concentrations appeared in winter season. The atmospheric concentration of 212Pb and SO2 after the eruption of Miyake-jima volcano on Aug. 29, 2000 were higher than average value in the season. After the eruption, the variation in the concentration of SO2 correlates with that of 212Pb. The atmospheric concentration of 212Pb showed an unusual and temporal increase in the period from late August to early September, 2000, being inferred to be attributed partly to the 212Pb fallout originating from the 2000 eruption of Miyake jima volcano, Japan. (author)

  12. DISEASES

    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi;

    2015-01-01

    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition of...... human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should not...... stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases. The...

  13. Atypical visual loss in giant cell arteritis

    DEFF Research Database (Denmark)

    Thystrup, Jan Deichmann; Knudsen, G M; Mogensen, A M;

    1994-01-01

    terminal stage of his disease due to bilateral occipital cortex infarctions, verified by CT-scan. Autopsy revealed involvement of several intracranial arteries. In case No. 2 there was severe unilateral visual loss and cotton-wool exudates in both eyes. Central vision recovered after corticosteroid therapy...

  14. Atypical respiratory complications of dengue fever

    Institute of Scientific and Technical Information of China (English)

    Naveen Kumar; AK Gadpayle; Deepshikha Trisal

    2013-01-01

    In last decade, dengue has emerged as one of the most important vector born disease.With increasing cases, uncommon presentations and complications are now commonly recognized. Here, we report two cases of rare pattern of respiratory involvement in dengue: acute respiratory distress syndrome and bronchiolitis with respiratory failure.

  15. Evidence for Broadening Criteria for Atypical Depression Which May Define a Reactive Depressive Disorder

    OpenAIRE

    Brett Silverstein; Jules Angst

    2015-01-01

    Objective. Arguing that additional symptoms should be added to the criteria for atypical depression. Method. Published research articles on atypical depression are reviewed. Results. (1) The original studies upon which the criteria for atypical depression were based cited fatigue, insomnia, pain, and loss of weight as characteristic symptoms. (2) Several studies of DSM depressive criteria found patients with atypical depression to exhibit high levels of insomnia, fatigue, and loss of appetit...

  16. Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

    Directory of Open Access Journals (Sweden)

    Ranji Chibbar

    2010-01-01

    Full Text Available A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years. The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.

  17. Biliary Stones: An atypical cause of abdominal pain in Paediatric age group

    International Nuclear Information System (INIS)

    Objective: To identify Paediatric patients with biliary stone disease presenting to a tertiary care hospital in order to determine the etiology, presentation and management. Methods: Retrospective study of all cases of ultrasonographically proven biliary stones under the age of 15 years from January 1988 to December 2008. Data included their risk factors, complications, management and outcome. Results: Total 32 patients were identified with biliary stones, treated in the hospital. Mean age at presentation was 8.25 +- 3.33 years. Sixteen patients underwent cholecystectomy. Conclusion: Paediatric cholelithiasis is an atypical and under-diagnosed cause of abdominal pain in childhood. True prevalence of the disease may be higher than reported. Appropriate surgical intervention is required in patients with symptomatic and complicated biliary lithiasis. (author)

  18. Discovering disease associations by integrating electronic clinical data and medical literature.

    Directory of Open Access Journals (Sweden)

    Antony B Holmes

    Full Text Available Electronic health record (EHR systems offer an exceptional opportunity for studying many diseases and their associated medical conditions within a population. The increasing number of clinical record entries that have become available electronically provides access to rich, large sets of patients' longitudinal medical information. By integrating and comparing relations found in the EHRs with those already reported in the literature, we are able to verify existing and to identify rare or novel associations. Of particular interest is the identification of rare disease co-morbidities, where the small numbers of diagnosed patients make robust statistical analysis difficult. Here, we introduce ADAMS, an Application for Discovering Disease Associations using Multiple Sources, which contains various statistical and language processing operations. We apply ADAMS to the New York-Presbyterian Hospital's EHR to combine the information from the relational diagnosis tables and textual discharge summaries with those from PubMed and Wikipedia in order to investigate the co-morbidities of the rare diseases Kaposi sarcoma, toxoplasmosis, and Kawasaki disease. In addition to finding well-known characteristics of diseases, ADAMS can identify rare or previously unreported associations. In particular, we report a statistically significant association between Kawasaki disease and diagnosis of autistic disorder.

  19. Role of laboratory in rapid diagnosis of atypical mumps

    Directory of Open Access Journals (Sweden)

    KE Vandana

    2010-04-01

    Full Text Available Fairly large number of mumps virus infections present atypically without parotitis leading to delay in diagnosis and increased morbidity. Awareness of such presentations and inclusion of serological test for detecting IgM-specific antibodies could help in solving diagnostic dilemma, especially in unvaccinated individuals from developing countries.

  20. Use of atypical antipsychotics in the elderly: a clinical review

    Directory of Open Access Journals (Sweden)

    Gareri P

    2014-08-01

    Full Text Available Pietro Gareri,1 Cristina Segura-García,2 Valeria Graziella Laura Manfredi,1 Antonella Bruni,2 Paola Ciambrone,2 Gregorio Cerminara,2 Giovambattista De Sarro,2 Pasquale De Fazio2 1Elderly Health Care, Azienda Sanitaria Provinciale Catanzaro, Catanzaro, Italy; 2Department of Health Sciences, University “Magna Græcia” of Catanzaro, Catanzaro, Italy Abstract: The use of atypical antipsychotic drugs in the elderly has become wider and wider in recent years; in fact, these agents have novel receptor binding profiles, good efficacy with regard to negative symptoms, and reduced extrapyramidal symptoms. However, in recent years, the use of both conventional and atypical antipsychotics has been widely debated for concerns about their safety in elderly patients affected with dementia and the possible risks for stroke and sudden death. A MEDLINE search was made using the words elderly, atypical antipsychotics, use, schizophrenia, psychosis, mood disorders, dementia, behavioral disorders, and adverse events. Some personal studies were also considered. This paper reports the receptor binding profiles and the main mechanism of action of these drugs, together with their main use in psychiatry and the possible adverse events in elderly people. Keywords: atypical antipsychotics, dementia, elderly, psychosis, mood disorders, side effects

  1. ATYPICAL BULLOUS PYODERMA GANGRENOSUM WITH EARLY LESIONS MIMICKING CHICKEN POX

    OpenAIRE

    Ramesh; Kavya Raju; Gopal; Sharath Kumar; Nandini

    2013-01-01

    ABSTRACT : Pyoderma Gangrenosum (PG) rare neutrophilic dermatoses (1/100,00 0), of which Bullous Pyoderma gangrenosum is an atypical form, which is very rare. Bullous PG is usually associated with haematological disorders like myeloproliferative disorders, haematological malignancies specially AML and several other haematological disorders. It presents as a superficial haemorrhagic bulla which ulcerates, ulcers increase in size and heal with scarring. Treatmen...

  2. Atypical Autism and Tuberous Sclerosis in a Sibling Pair.

    Science.gov (United States)

    Williamson, David A.; Bolton, Patrick

    1995-01-01

    This report describes a sibling pair (ages 21 and 18), both with tuberous sclerosis. One sibling has atypical autism (but no mental retardation or seizure disorder) and the other has a seizure disorder but no autism or mental retardation. Both siblings had multiple bilateral brain lesions. Clinical findings are discussed in relationship to the…

  3. Treatment of atypical trigeminal neuralgia with microvascular decompression

    Directory of Open Access Journals (Sweden)

    Hai Jian

    2006-01-01

    Full Text Available Aim: To explore the methods for achieving pain relief in patients with atypical trigeminal neuralgia (TN using microvascular decompression (MVD. Study Design and Settings: Retrospective study of 26 patients treated during the years 2000 to 2004. Materials and Methods: Twenty-six patients in whom vascular compression of the trigeminal nerve was identified by high definition magnetic resonance tomographic angiography (MRTA were treated with MVD for atypical TN in our department. Clinical presentations, surgical findings and clinical outcomes were analyzed retrospectively. Results: In this study, single trigeminal division was involved in only 2 patients (8% and two or three divisions in the other 24 patients (92%. Of prime importance is the fact that in 46.2% of the patients, several conflicting vessels were found in association. Location of the conflicts around the circumference of the trigeminal root was supero-medial to the root in 53.5%, supero-lateral in 30.8% and inferior in 15.7%. MVD for atypical TN resulted in complete pain relief in 50% of the patients with complete decompression, partial pain relief in 30.8% and poor pain relief or pain recurrence in 19.2% of the patients without complete decompression postoperatively. Conclusions: Complete decompression of the entire trigeminal root plays an important role in achieving pain relief in patients with atypical TN with MVD.

  4. Characterization of atypical Aeromonas salmonicida by different methods

    DEFF Research Database (Denmark)

    Austin, B.; Austin, D.A.; Dalsgaard, Inger; Gudmundsdottir, B.K.; Høie, S.; Thornton, J.M.; Larsen, J.L.; O'Hici, B.; Powell, R.

    1998-01-01

    Fifty two isolates of atypical Aeromonas salmonicida, recovered from a wide range of hosts and geographical locations, were heterogeneous in terms of molecular and phenotypic characteristics, and represented taxa which could not be accommodated by the current classification of four subspecies. Ge...

  5. Einstein A-values of A-type methanol

    International Nuclear Information System (INIS)

    This paper uses the model of a slightly asymmetric top with hindered internal rotation to calculate the total energies, the transition frequencies and Einstein A-values of the A-type CH3OH-molecule. The levels are lower than 352cm-1 above the ground state. It means that there are 340 Levels in total

  6. Benzisoxazole derivatives as Atypical Antipsychotic drugs: A Review

    Directory of Open Access Journals (Sweden)

    Sharath Chandra S P

    2014-12-01

    Full Text Available Antipsychotic medications constitute a diverse series of heterocyclic compounds that are used to treat psychotic problems, particularly schizophrenia and bipolar affective disorders. Heterocyclic molecules such as benzisoxazole derivatives, especially 3-(piperidin-4-yl-1,2-benzisoxazole have been widely used as antipsychotic drugs. Atypical antipsychotic drugs which are derived from benzisoxazole include risperidone, iloperidone and paliperidone.

  7. Characterization of atypical Aeromonas salmonicida by different methods

    DEFF Research Database (Denmark)

    Austin, B.; Austin, D.A.; Dalsgaard, Inger; Gudmundsdottir, B.K.; Høie, S.; Thornton, J.M.; Larsen, J.L.; O'Hici, B.; Powell, R.

    1998-01-01

    Fifty two isolates of atypical Aeromonas salmonicida, recovered from a wide range of hosts and geographical locations, were heterogeneous in terms of molecular and phenotypic characteristics, and represented taxa which could not be accommodated by the current classification of four subspecies...

  8. Large saphenous venous graft aneurysm mimicking atypical mediastinal mass

    Directory of Open Access Journals (Sweden)

    Krotin Mirjana

    2009-01-01

    Full Text Available Background. Saphenous venous graft (SVG aneurysm is a very rare but potentially fatal complication of the coronary artery bypass surgery. Case report. We reported a case of 72-year-old man admitted to hospital because of atypical chest pain related to body motions in horizontal position, especially to the left side. Pain was followed by dispnea, palpitations, fatigue, cough, yellow sputum expectorations, as well as elevated temperature. He had had coronary artery bypass grafting (CABG surgery with saphenous vein grafts (SVGs to the left anterior descending artery (LAD and right coronary artery (RCA 27 years earlier. Chest X-ray revealed a poor-defined shadow in the region of the right atrium. A transthoracic echocardiogram revealed an atypical tumorous mediastinal mass near the right atrium and right ventricle that seemed partially calcified on transesophaeal echocardiography (TEE. CT scan confirmed an atypical mediastinal mass in contact with the right ventricle that might be a right ventricle aneurysm, pericardial cyst or SVG aneurysm. Coronary angiography was performed subsequently and it revealed a big saphenous venous graft aneurysm originating from the previous venous graft to the RCA. The aneurysm was resected and a new bypass graft was placed. Histopathology confirmed a true aneurysm of the venous graft. Conclusion. Although SVG aneurysm is a very rare complication of CABG surgery, patients presenting with atypical hilar or mediastinal mass following CABG should always be evaluated firstly for existence of this cardiosurgical complication.

  9. Trends in Scientific Literature on Atypical Antipsychotics in South Korea: A Bibliometric Study

    OpenAIRE

    López-Muñoz, Francisco; Shen, Winston W.; Pae, Chi-un; Moreno, Raquel; Rubio, Gabriel; Molina, Juan D.; Noriega, Concha; Pérez-Nieto, Miguel A.; Huelves, Lorena; Álamo, Cecilio

    2013-01-01

    Objective We have carried out a bibliometric study on the scientific publications in relation to atypical or second-generation antipsychotic drugs (SGAs) in South Korea. Methods With the EMBASE and MEDLINE databases, we selected those publications made in South Korea whose title included the descriptors atypic* (atypical*) antipsychotic*, second-generation antipsychotic*, clozapine, risperidone, olanzapine, ziprasidone, quetiapine, sertindole, aripiprazole, paliperidone, amisulpride, zotepine...

  10. Use of Atypical Antipsychotics in Nursing Homes and Pharmaceutical Marketing

    Science.gov (United States)

    Pimentel, Camilla B.; Donovan, Jennifer L.; Field, Terry S.; Gurwitz, Jerry H.; Harrold, Leslie R.; Kanaan, Abir O.; Lemay, Celeste A.; Mazor, Kathleen M.; Tjia, Jennifer; Briesacher, Becky A.

    2014-01-01

    BACKGROUND Many nursing home (NH) residents are prescribed atypical antipsychotics despite US Food and Drug Administration warnings of increased risk of death in older adults with dementia. Aggressive pharmaceutical marketing has been cited as a potential cause, although data are scarce. The objectives of this study were to describe the current extent and type of pharmaceutical marketing in NHs in one state, and to provide preliminary evidence for the potential influence of pharmaceutical marketing on the use of atypical antipsychotics in NHs. DESIGN Nested mixed-methods, cross-sectional study of NHs in a cluster randomized trial. SETTING 41 NHs in Connecticut. PARTICIPANTS NH administrators, directors of nursing and medical directors (n = 93, response rate 75.6%). MEASUREMENTS Quantitative data, including prescription drug dispensing data (September 2009–August 2010) linked with Nursing Home Compare data (April 2011), were used to determine facility-level prevalence of atypical antipsychotic use, facility-level characteristics, NH staffing and NH quality. Qualitative data, including semi-structured interviews and surveys of NH leaders conducted in the first quarter of 2011, were used to determine encounters with pharmaceutical marketing. RESULTS Leadership at 46.3% of NHs (19/41) reported pharmaceutical marketing encounters, consisting of educational training, written/Internet-based materials and/or sponsored training. No association was detected between the level of atypical antipsychotic prescribing and reports of any pharmaceutical marketing by at least one NH leader. CONCLUSION NH leaders frequently encounter pharmaceutical marketing through a variety of ways, although the impact on atypical antipsychotic prescribing is unclear. PMID:25688605

  11. Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms.

    Science.gov (United States)

    Romá-Mateo, Carlos; Sacristán-Reviriego, Almudena; Beresford, Nicola J; Caparrós-Martín, José Antonio; Culiáñez-Macià, Francisco A; Martín, Humberto; Molina, María; Tabernero, Lydia; Pulido, Rafael

    2011-04-01

    Dual-specificity phosphatases (DSPs) constitute a large protein tyrosine phosphatase (PTP) family, with examples in distant evolutive phyla. PFA-DSPs (Plant and Fungi Atypical DSPs) are a group of atypical DSPs present in plants, fungi, kinetoplastids, and slime molds, the members of which share structural similarity with atypical- and lipid phosphatase DSPs from mammals. The analysis of the PFA-DSPs from the plant Arabidopsis thaliana (AtPFA-DSPs) showed differential tissue mRNA expression, substrate specificity, and catalytic activity for these proteins, suggesting different functional roles among plant PFA-DSPs. Bioinformatic analysis revealed the existence of novel PFA-DSP-related proteins in fungi (Oca1, Oca2, Oca4 and Oca6 in Saccharomyces cerevisiae) and protozoa, which were segregated from plant PFA-DSPs. The closest yeast homolog for these proteins was the PFA-DSP from S. cerevisiae ScPFA-DSP1/Siw14/Oca3. Oca1, Oca2, Siw14/Oca3, Oca4, and Oca6 were involved in the yeast response to caffeine and rapamycin stresses. Siw14/Oca3 was an active phosphatase in vitro, whereas no phosphatase activity could be detected for Oca1. Remarkably, overexpression of Siw14/Oca3 suppressed the caffeine sensitivity of oca1, oca2, oca4, and oca6 deleted strains, indicating a genetic linkage and suggesting a functional relationship for these proteins. Functional studies on mutations targeting putative catalytic residues from the A. thaliana AtPFA-DSP1/At1g05000 protein indicated the absence of canonical amino acids acting as the general acid/base in the phosphor-ester hydrolysis, which suggests a specific mechanism of reaction for PFA-DSPs and related enzymes. Our studies demonstrate the existence of novel phosphatase protein families in fungi and protozoa, with active and inactive enzymes linked in common signaling pathways. This illustrates the catalytic and functional complexity of the expanding family of atypical dual-specificity phosphatases in non-metazoans, including

  12. A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I: a case report

    Directory of Open Access Journals (Sweden)

    Kvittingen Eli-Anne

    2009-12-01

    Full Text Available Abstract A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver. Serum transaminases were elevated to 5-10 times upper limit of normal, alkaline phosphatases were 1685 U/L (180 s ( Fumarylacetoacetase (FAH protein and activity in cultured fibroblasts and liver tissue were decreased but not absent. 4-hydroxyphenylpyruvate dioxygenase activity in liver was normal, which is atypical for tyrosinemia type I. A novel mutation was found in the FAH gene: c.103G>A (Ala35Thr. In vitro expression studies showed this mutation results in a strongly decreased FAH protein expression. Dietary treatment with phenylalanine and tyrosine restriction was initiated at 4 months, leading to complete clinical and biochemical normalisation. The patient, currently aged 12 years, shows a normal physical and psychomotor development. This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate.

  13. IDENTIFICATION OF NON-MYCOBACTERIA, ATYPICAL MYCOBACTERIA AND MYCOBACTERIUM TUBERCULOSIS BY A NEW MICROBIOLOGICAL PROTOCOL

    Directory of Open Access Journals (Sweden)

    Rojas, Jesús

    2011-01-01

    Full Text Available Tuberculosis is a major pandemic disease caused by Mycobacterium tuberculosis. There are also other bacteria that cause clinically similar patterns leading to a misinterpretation in the identification in the laboratory. Therefore it is necessary to introduce a new protocol to correctly identify pathogens in samples in the microbiology laboratory. ATP1084, TCD007 and LS (M. tuberculosis samples were used. Staining was performed with Ziehl-Neelsen (ZN and auramine. Cultures used were MOD (Middle Microscopic Observation for Tuberculosis, LJ (Lowenstein-Jensen and 7H11 solid medium. ATP1084 and TCD007 samples showed similar patterns on auramine staining, cultivation 7H11 and MOD in early growth, but showed different characteristics in ZN staining and culture of LJ. TCD007, ATP1084 and LS were compared with growth time discriminating between MOD but with a shape similar to the colonies. Although culture in liquid media like MOD has a high sensitivity and specificity, the presence of cord formation is considered a feature for LS. In some cases, different bacteria have a similar morphology LS medium even MOD. However, a key point is to use the culture time, ZN staining and the LJ culture to discriminate whether they are atypical mycobacteria or not, tuberculosis by LS. ATP1084, TCD007 and LS were identified as a non-alcohol acid resistant mycobacteria, atypical mycobacteria and M. tuberculosis, respectively.

  14. Fungal rhinosinusitis with atypical presentation – a report of two cases

    Directory of Open Access Journals (Sweden)

    Rafael da Costa Monsanto

    2015-05-01

    Full Text Available Rhinosinusitis affects approximately 20% of the population, and the chronic rhinosinusitis represents over 90% of all cases of rhinosinusitis. The correct diagnosis is important for proper treatment and to predict its evolution. This study presents two cases of atypical frontal sinus disease, which the follow-up revealed a diagnosis of fungal rhinosinusitis. The present study aims to describe the cases of two patients with atypical lesions on the left frontal sinus; the treatment options, surgical approach, results, diagnosis and follow-up are further discussed. A significant increase in the reported cases of fungal rhinosinusitis has been seen in the last two decades, justified by the use of broad-spectrum antibiotics and steroids, as well as the increased number of immunocompromised individuals. This study reports the cases of two patients with a type of fungal rhinosinusitis named "fungal ball", characterized by a tangle of hyphae in the sinuses without tissue invasion. The treatment included surgical removal of the fungal infectious process with aeration of the affected sinus, and the procedure was successfully performed in our patients.

  15. Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy

    Science.gov (United States)

    Garg, Abhimanyu; Sankella, Shireesha; Xing, Chao; Agarwal, Anil K.

    2016-01-01

    Despite identification of causal genes for various lipodystrophy syndromes, the molecular basis of some peculiar lipodystrophies remains obscure. In an African-American pedigree with a novel autosomal dominant, atypical familial partial lipodystrophy (FPLD), we performed linkage analysis for candidate regions and whole-exome sequencing to identify the disease-causing mutation. Affected adults reported marked loss of fat from the extremities, with excess fat in the face and neck at age 13–15 years, and developed metabolic complications later. A heterozygous g.112837956C>T mutation on chromosome 10 (c.202C>T, p.Leu68Phe) affecting a highly conserved residue in adrenoceptor α 2A (ADRA2A) was found in all affected subjects but not in unaffected relatives. ADRA2A is the main presynaptic inhibitory feedback G protein–coupled receptor regulating norepinephrine release. Activation of ADRA2A inhibits cAMP production and reduces lipolysis in adipocytes. As compared with overexpression of a wild-type ADRA2A construct in human embryonic kidney–293 cells and differentiated 3T3-L1 adipocytes, the mutant ADRA2A produced more cAMP and glycerol, which were resistant to the effects of the α2-adrenergic receptor agonist clonidine and the α2-adrenergic receptor antagonist yohimbine, suggesting loss of function. We conclude that heterozygous p.Leu68Phe ADRA2A mutation causes a rare atypical FPLD, most likely by inducing excessive lipolysis in some adipose tissue depots.

  16. Atypical PKC-iota Controls Stem Cell Expansion via Regulation of the Notch Pathway

    Directory of Open Access Journals (Sweden)

    In Kyoung Mah

    2015-11-01

    Full Text Available The number of stem/progenitor cells available can profoundly impact tissue homeostasis and the response to injury or disease. Here, we propose that an atypical PKC, Prkci, is a key player in regulating the switch from an expansion to a differentiation/maintenance phase via regulation of Notch, thus linking the polarity pathway with the control of stem cell self-renewal. Prkci is known to influence symmetric cell division in invertebrates; however a definitive role in mammals has not yet emerged. Using a genetic approach, we find that loss of Prkci results in a marked increase in the number of various stem/progenitor cells. The mechanism used likely involves inactivation and symmetric localization of NUMB, leading to the activation of NOTCH1 and its downstream effectors. Inhibition of atypical PKCs may be useful for boosting the production of pluripotent stem cells, multipotent stem cells, or possibly even primordial germ cells by promoting the stem cell/progenitor fate.

  17. Atypical presentation of a middle age male with severe hypertriglyceridaemia: a case report

    Directory of Open Access Journals (Sweden)

    Albahrani Ali I

    2007-07-01

    Full Text Available Abstract Background Severe hypertriglyceridaemia (HTG is uncommon but most prevalent in subjects with type 2 diabetes mellitus (T2DM and excess ethanol intake. Case presentation We describe a case of a middle age male (53 y presenting to the emergency room with acute atypical central chest pain and severe HTG in the absence of evidence of overt ischaemic heart disease (IHD. Admission ECG and EET (exercise tolerance test were negative for reversible ischaemic changes. His admission glucose was 12.2 mmol/l, triglycerides (TG were 103 mmol/l, total cholesterol 37 mmol/l. Cardiac Troponin T could not be measured on three occasions but CK MB mass was normal at 3 μg/l. The patient was started on Bezafibrate 400 mg OD, Simvastatin 20 mg nocte, Omacor (Omega-3 fish oil 1 gm bd and Metformin 500 mg tds. Four weeks after admission, lipid and liver profiles showed remarkable improvement, TG 2.9 mmol/l, Tchol 6.3 mmol/l and HDLc 1.5 mmol/l, ALAT and GGT were normal. Conclusion A case report of severe hypertriglyceridaemia with atypical presentation demonstrate the role of combined lipid modifying agents in lowering triglycerides and cholesterol as well as improving liver enzymes.

  18. [Bone diseases].

    Science.gov (United States)

    Uebelhart, Brigitte; Rizzoli, René

    2016-01-13

    Calcium intake shows a small impact on bone mineral density and fracture risk. Denosumab is a more potent inhibitor of bone resorption than zoledronate. Abaloparatide, PTHrP analog, increases bone mineral density and decreases fracture incidence. Teriparatide could be delivered via a transdermic device. Romosozumab and odanacatib improve calculated bone strength. Sequential or combined treatments with denosumab and teriparatide could be of interest, but not denosumab followed by teriparatide. Fibrous dysplasia, Paget disease and hypophosphatasia are updated, as well as atypical femoral fracture and osteonecrosis of the jaw. PMID:26946704

  19. Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors

    Energy Technology Data Exchange (ETDEWEB)

    Parmar, Hemant; Shroff, Manohar [Hospital for Sick Children, Department of Diagnostic Imaging, Toronto, ON (Canada); Hawkins, Cynthia [Hospital for Sick Children, Department of Neuropathology, Toronto, ON (Canada); Bouffet, Eric [Hospital for Sick Children, Department of Neuro-Oncology, Toronto, ON (Canada); Rutka, James [Hospital for Sick Children, Department of Neurosurgery, Toronto, ON (Canada)

    2006-02-01

    Intracranial atypical teratoid/rhabdoid tumors (AT/RT) are rare and extremely aggressive neoplasms seen primarily in childhood. Imaging features are often considered non-specific. However, correct diagnosis of AT/RT is important because these tumors have a markedly different clinical prognosis and require more aggressive therapy. To determine the imaging features of AT/RT. We retrospectively analyzed imaging findings in 11 patients with primary intracranial AT/RT presenting over a period of 5 years. CT (n=11), MR (n=7), clinical (n=11) and pathological (n=11) features were evaluated. FISH analysis showing monosomy of chromosome 22 (absence of bcr 22q11 locus) was available for three patients. Immunohistochemical staining for INI-1 (BAF47) was performed on all tumors. There were 11 patients, 6 boys and 5 girls. The age of presentation varied from 1 month to 15 years (average age 3 years 8 months). Six tumors were located in the posterior fossa and five in the supratentorial compartment. The tumors showed a hyperdense solid component (64%) that showed moderate to marked enhancement with contrast medium. On MR imaging, the predominant signal pattern was isointensity on T1-weighted images (57%) and T2 shortening with heterogeneity on T2-weighted images (86%). All tumors were large in size (average 4.2 x 3.7 cm), and there was a tendency for calcification (36%), hemorrhage (46%), necrosis (46%) and perifocal edema (100%). There was also a high tendency for subarachnoid dissemination, with five patients (46%) demonstrating brain and/or spinal metastasis. At follow-up (n=7), six patients showed local recurrence. At the time of recurrence, all these patients showed extensive leptomeningeal spread of the disease in both intracranial and intraspinal compartments. There are no specific imaging features for intracranial AT/RT. But a high tendency toward large size, a hyperdense solid component on CT scan with calcification, hemorrhage, necrosis and subarachnoid spread suggest

  20. Disease: H01239 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is cause... hsa04142(5660) Lysosome PSAP [HSA:5660] [KO:K12382] Defects in PSAP saposin-B region are the cause of metac...hromatic leukodystrophy [DS:H00127]. Defects in PSAP saposin-C region are the cause... of atypical Gaucher disease [DS:H00126]. Defects in PSAP saposin-A region are the cause of atypical Krabb...taneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codo

  1. Benign mast cell hyperplasia and atypical mast cell infiltrates in penile lichen planus in adult men.

    Science.gov (United States)

    Regauer, Sigrid; Beham-Schmid, Christine

    2014-08-01

    Introduction. Lichen planus (LP) is a chronic cytokine-mediated disease of possible auto-immune etiology. 25% of men have anogenital manifestations. Erosive penile LP causes a scarring phimosis of the foreskin in uncircumcised men. Mast cells as potent immune modulators have been implicated in a number of autoimmune and chronic inflammatory diseases, but have not been investigated in LP. Material and Methods. Formalin-fixed tissues of 117 circumcision specimens of adult men affected by LP were evaluated for the extent of mast cell and lymphocyte infiltrates, characterized immunohistochemically with antibodies to CD 3, 4, 8, 20, 21, 25, 30, 117c and human mast cell tryptase. Specimens with dense mast cell infiltrates were analyzed for point mutations of the c-kit gene (D816V). Results. Unaffected skin and modified mucosa of foreskins contained ⟨5 mast cells/mm². The inflammatory infiltrate of LP-lesions displayed ⟨15 mast cells/mm² in 33/117 foreskins, 16-40 mast cells/mm² in 22/117 and ⟩40 mast cells/mm² (average 70, range 40-100) in 62/117 foreskins. Lesional mast cells of 29/117 (24%) foreskins showed aberrant CD25-expression and/or spindled morphology, with 11/29 men having erosive LP, 13/29 a lymphocytic vasculitis and 1/28 a systemic mastocytosis. Neither CD30-expression nor c-kit mutations were identified. Atypical mast cell infiltrates in LP correlated with high disease activity, erosive LP and presence of lymphocytic vasculitis Conclusions. Increased mast cells in penile LP, mostly representing a benign hyperplasia/activation syndrome, suggests them as targets for innovative therapy options for symptomatic LP-patients not responding to corticosteroid therapy. Presently, the biological implications of atypical mast cell infiltrates in penile LP are unknown. PMID:24402730

  2. Google-driven search for big data in autoimmune geoepidemiology: analysis of 394,827 patients with systemic autoimmune diseases.

    Science.gov (United States)

    Ramos-Casals, Manuel; Brito-Zerón, Pilar; Kostov, Belchin; Sisó-Almirall, Antoni; Bosch, Xavier; Buss, David; Trilla, Antoni; Stone, John H; Khamashta, Munther A; Shoenfeld, Yehuda

    2015-08-01

    Systemic autoimmune diseases (SADs) are a significant cause of morbidity and mortality worldwide, although their epidemiological profile varies significantly country by country. We explored the potential of the Google search engine to collect and merge large series (>1000 patients) of SADs reported in the Pubmed library, with the aim of obtaining a high-definition geoepidemiological picture of each disease. We collected data from 394,827 patients with SADs. Analysis showed a predominance of medical vs. administrative databases (74% vs. 26%), public health system vs. health insurance resources (88% vs. 12%) and patient-based vs. population-based designs (82% vs. 18%). The most unbalanced gender ratio was found in primary Sjögren syndrome (pSS), with nearly 10 females affected per 1 male, followed by systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and antiphospholipid syndrome (APS) (ratio of nearly 5:1). Each disease predominantly affects a specific age group: children (Kawasaki disease, primary immunodeficiencies and Schonlein-Henoch disease), young people (SLE Behçet disease and sarcoidosis), middle-aged people (SSc, vasculitis and pSS) and the elderly (amyloidosis, polymyalgia rheumatica, and giant cell arteritis). We found significant differences in the geographical distribution of studies for each disease, and a higher frequency of the three SADs with available data (SLE, inflammatory myopathies and Kawasaki disease) in African-American patients. Using a "big data" approach enabled hitherto unseen connections in SADs to emerge. PMID:25842074

  3. MACROGLOSSIA AS A CAUSE OF ATYPICAL SWALLOWING: COMPARISON OF EVALUATION AND LOGOPEDIC TREATMENT BETWEEN BECKWITH-WIEDEMANN AND DOWN PATIENTS

    Directory of Open Access Journals (Sweden)

    C. Anichini

    2013-12-01

    Full Text Available Atypical swallowing is the persistence of childlike deglutition at the end of dental eruption. One of the main causes is macroglossia, that is the abnormal enlargement of the tongue. The treatment is logopedic and/or surgical. Children with macroglossia have an increased incidence of respiratory diseases and infections, as well as malocclusions, articulatory defects and aesthetic damage. In this study we focused on two genetic syndromes with macroglossia: Beckwith-Wiedemann Syndrome (BWS and Down Syndrome (DS: 7 patients were evaluated for logopedic treatment: 3 are affected by BWS, 2 are affected by DS. In addition, 2 patients with isolated atypical swallowing were included in the study to emphasize problems connected with atypical swallowing. All the patients underwent a global examination and a personalized logopedic therapy scheme was planned. With the exception of one of them who was lost to follow up and who did not continue with the exercises the speech therapist had recommended, all the children showed good response and compliance with remarkable improvements, thus proving the importance of an early, constant and intensive logopedic treatment.

  4. An atypical presentation of visual conversion disorder.

    Science.gov (United States)

    Foutch, Brian K

    2015-01-01

    Nonorganic vision loss accounts for up to 5% of patients and presents in two forms, malingering and visual conversion disorder (VCD). It is described a case of VCD in a new mother struggling both with her husband being deployed overseas and the recent death of her father. In addition, she had been evaluated for a concussion secondary to a motor vehicle accident three months prior. An inexpensive series of clinical tests were performed to rule out organic disease and obtained equivocal results. Some tests revealed intact vision in the affected eye while others supported a neurological cause for the vision loss. However, the patient quickly recovered normal visual acuity when encouraged to discuss situations that have been causing emotional stress. This almost immediate recovery of vision confirmed the diagnosis of VCD. This report should make primary eye care professionals more aware of visual conversion disorder and its clinical evaluation. PMID:25744066

  5. AN ATYPICAL PRESENTATION OF GROWING SKULL FRACTURE: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ashok

    2015-04-01

    Full Text Available A growing skull fracture (GSF or craniocerebral erosion or leptomeningeal cyst, is characterized by progressive diastatic enlargement of fracture line. Growing skull fracture is a rare neurological complication and ac counts for 1.2 - 1.6% of the head injury patients. GSF is generally seen in children less than 3 year of age. Authors present an atypical case of growing skull fracture in comminuted type of skull fracture which was timely and successfully managed with very good outcome. Atypical presentation, risk factors, etiopathogenesis, management and outcome in GSF is discussed along with review of literature. Delayed diagnosis and improper treatment could worsen this condition while timely surgical intervention can hav e excellent outcome.

  6. Acute Zonal Occult Outer Retinopathy with Atypical Findings

    Directory of Open Access Journals (Sweden)

    Dimitrios Karagiannis

    2014-01-01

    Full Text Available Background. To report a case of acute zonal occult outer retinopathy (AZOOR with atypical electrophysiology findings. Case Presentation. A 23-year-old-female presented with visual acuity deterioration in her right eye accompanied by photopsia bilaterally. Corrected distance visual acuity at presentation was 20/50 in the right eye and 20/20 in the left eye. Fundus examination was unremarkable. Visual field (VF testing revealed a large scotoma. Pattern and full-field electroretinograms (PERG and ERG revealed macular involvement associated with generalized retinal dysfunction. Electrooculogram (EOG light rise and the Arden ratio were within normal limits bilaterally. The patient was diagnosed with AZOOR due to clinical findings, visual field defect, and ERG findings. Conclusion. This is a case of AZOOR with characteristic VF defects and clinical symptoms presenting with atypical EOG findings.

  7. Magnetic field in atypical prominence structures: Bubble, tornado and eruption

    CERN Document Server

    Levens, P J; Ariste, A López; Labrosse, N; Dalmasse, K; Gelly, B

    2016-01-01

    Spectropolarimetric observations of prominences have been obtained with the THEMIS telescope during four years of coordinated campaigns. Our aim is now to understand the conditions of the cool plasma and magnetism in `atypical' prominences, namely when the measured inclination of the magnetic field departs, to some extent, from the predominantly horizontal field found in `typical' prominences. What is the role of the magnetic field in these prominence types? Are plasma dynamics more important in these cases than the magnetic support? We focus our study on three types of `atypical' prominences (tornadoes, bubbles and jet-like prominence eruptions) that have all been observed by THEMIS in the He I D_3 line, from which the Stokes parameters can be derived. The magnetic field strength, inclination and azimuth in each pixel are obtained by using the Principal Component Analysis inversion method on a model of single scattering in the presence of the Hanle effect. The magnetic field in tornadoes is found to be more ...

  8. Sensitivity of atypical lateral fire spread to wind and slope

    Science.gov (United States)

    Simpson, Colin. C.; Sharples, Jason J.; Evans, Jason P.

    2016-02-01

    This study presents new knowledge of the environmental sensitivity of a dynamic mode of atypical wildland fire spread on steep lee-facing slopes. This is achieved through a series of idealized numerical simulations performed with the Weather Research and Forecasting (WRF) and WRF-Fire coupled atmosphere-fire models. The sensitivity of the atypical lateral fire spread across lee slopes is tested for a varying background wind speed, wind direction relative to the terrain aspect, and lee slope steepness. The results indicate that the lateral spread characteristics are highly sensitive to each of these environmental conditions, and there is a broad agreement with the empirical thresholds calculated for lateral spread events observed in the 2003 Canberra bushfires. A theory to explain these environmental thresholds and their apparent interdependency is presented. The results are expected to have important implications for the management of wildland fires in rugged terrain.

  9. Atypical C-ANCA following high dose intravenous immunoglobulin.

    OpenAIRE

    Jolles, S; Deacock, S; Turnbull, W; Silvestrini, R; Bunn, C; White, P.; Ward, M

    1999-01-01

    AIMS: (1) To assess a range of intravenous immunoglobulin products for atypical classical antineutrophil cytoplasmic antibody (C-ANCA) staining and to determine if this is present in patients treated with high dose intravenous immunoglobulin (2 g/kg/month) and replacement doses (200 mg/kg fortnightly); (2) using the United Kingdom national external quality assessment scheme (NEQAS), to determine if laboratories could differentiate this pattern from classical ANCA. METHODS: ANCA testing was pe...

  10. Figurative language processing in atypical populations: The ASD perspective

    OpenAIRE

    Mila eVulchanova; David eSaldaña; Sobh eChahboun; Valentin eVulchanov

    2015-01-01

    This paper is intended to provide a critical overview of experimental and clinical research documenting problems in figurative language processing in atypical populations with a focus on the Autistic Spectrum. Research in the comprehension and processing of figurative language in autism invariably documents problems in this area. The greater paradox is that even at the higher end of the spectrum or in the cases of linguistically talented individuals with Asperger syndrome, where structural la...

  11. Magnetic field in atypical prominence structures: Bubble, tornado and eruption

    OpenAIRE

    Levens, P. J.; Schmieder, B.; Ariste, A. López; Labrosse, N.; Dalmasse, K.; Gelly, B.

    2016-01-01

    Spectropolarimetric observations of prominences have been obtained with the THEMIS telescope during four years of coordinated campaigns. Our aim is now to understand the conditions of the cool plasma and magnetism in `atypical' prominences, namely when the measured inclination of the magnetic field departs, to some extent, from the predominantly horizontal field found in `typical' prominences. What is the role of the magnetic field in these prominence types? Are plasma dynamics more important...

  12. Critical appraisal of eculizumab for atypical hemolytic uremic syndrome

    OpenAIRE

    Palma LMP; Langman CB

    2016-01-01

    Lilian M Pereira Palma,1 Craig B Langman2  1Pediatric Nephrology, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil; 2The Feinberg School of Medicine, Northwestern University, and the Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA Abstract: The biology of atypical hemolytic uremic syndrome has been shown to involve inability to limit activation of the alternative complement pathway, with subsequent damage to systemic endothelial bed...

  13. Childhood atypical meningioma with perineural spread: MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Wei, Feng-Yu.; Wong, Alex Mun-Ching; Wong, Ho-Fai; Ng, Shu-Hang [Chang Gung Memorial Hospital, Department of Diagnostic Radiology, Kwei-Shan, Tao-Yuan (Taiwan); Wu, Chieh-Tsai [Chang Gung Memorial Hospital, Department of Neurosurgery, Kwei-Shan, Tao-Yuan (Taiwan); Lin, Kuang-Lin [Chang Gung Memorial Hospital, Division of Pediatric Neurology, Kwei-Shan, Tao-Yuan (Taiwan)

    2005-09-01

    Meningiomas are uncommon in children. When they occur, they are frequently associated with neurofibromatosis type 2. Childhood meningiomas are generally large and commonly associated with cyst formation and an unusual location. Perineural tumor spread, occasionally associated with head and neck malignancies, is very rare in meningiomas. We present the MR findings of an atypical meningioma with perineural spread in a 4.5-year-old girl. (orig.)

  14. Atypical cerebral and cerebellar language organisation: a case study

    OpenAIRE

    Dun, Kim; Witte, Elke; Daele, Wendy Van; Van Hecke, Wim; Manto, Mario; Mariën, Peter

    2015-01-01

    Background In the majority of right-handed subjects, language processing is subserved by a close interplay between the left cerebral hemisphere and right cerebellum. Within this network, the dominant fronto-insular region and the contralateral posterior cerebellum are crucially implicated in oral language production. Case Presentation We report atypical anatomoclinical findings in a right-handed patient with an extensive right cerebellar infarction and an older left fronto-insular stroke. Sta...

  15. Atypicality in presentation of neuroleptic malignant syndrome caused by olanzapine

    OpenAIRE

    Mishra Biswaranjan; Mishra Baikunthanath; Sahoo Saddichha; Arora Manu; Khess C.R.J

    2007-01-01

    Neuroleptic malignant syndrome (NMS) is the most serious of acute neurological side effects produced by antipsychotic medication, characterized by hyperthermia, rigidity, altered consciousness and autonomic dysfunction, the prevalence of which varies from 0.4-1.4%. NMS is usually seen in treatment with high potency typical antipsychotics and very rarely with atypical antipsychotics. However, NMS cases have been reported with risperidone, clozapine, olanzapine and quetiapine. The presen...

  16. Endometrioid adenocarcinoma of the ovary arising in atypical endometriosis

    OpenAIRE

    Terada, Tadashi

    2012-01-01

    Ovarian endometriosis can transform into malignant tumors, and ovarian carcinomas relatively frequently contain foci of endometriosis. In this study, the author reviewed 15 cases of endometrioid adenocarcinoma of the ovary in the last 15 years of our pathology laboratory in search for the presence of endometriosis within the tumor. Six (40%) of the 15 endometrioid adenocarcinoma were found to have endometriosis in the tumor. All of the endometriosis were atypical. The age of the 6 patients ra...

  17. Atypical Attentional Networks and the Emergence of Autism

    OpenAIRE

    Keehn, Brandon; Müller, Ralph-Axel; Townsend, Jeanne

    2012-01-01

    The sociocommunicative impairments that define autism spectrum disorder (ASD) are not present at birth but emerge gradually over the first two years of life. In typical development, basic attentional processes may provide a critical foundation for sociocommunicative abilities. Therefore early attentional dysfunction in ASD may result in atypical development of social communication. Prior research has demonstrated that persons with ASD exhibit early and lifelong impairments in attention. The p...

  18. Early adjuvant radiotherapy in the treatment of atypical meningioma.

    Science.gov (United States)

    Jenkinson, Michael D; Waqar, Mueez; Farah, Jibril Osman; Farrell, Michael; Barbagallo, Giuseppe M V; McManus, Robin; Looby, Seamus; Hussey, Deirdre; Fitzpatrick, David; Certo, Francesco; Javadpour, Mohsen

    2016-06-01

    Atypical meningiomas have a greater propensity to recur than benign meningiomas and the benefits of early adjuvant radiotherapy are unclear. Existing studies report conflicting results. This retrospective cohort study evaluated the role of early adjuvant radiotherapy following surgical resection of atypical meningioma. A triple center case-note review of adults with newly-diagnosed atypical meningiomas between 2001 and 2010 was performed. Pathology diagnosis was made according to the World Health Organization classification in use at the time of surgery. Patients with multiple meningiomas, neurofibromatosis type 2 and radiation-induced meningiomas were excluded. Extent of resection was defined as gross total resection (GTR; Simpson Grade I-III) or subtotal resection (STR; Simpson Grade IV-V). Survival analysis was performed using the Kaplan-Meier method. One hundred thirty-three patients were identified with a median age of 62years (range 22-86years) and median follow-up of 57.4months (range 0.1-152.2months). Tumors were mostly located in the convexity (50.4%) or falcine/parasagittal regions (27.1%). GTR (achieved in 85%) was associated with longer progression free survival (PFS) (5year PFS 81.2% versus 40.08%, log-rank=11.117, p=0.001) but not overall survival (OS) (5year OS 76.6% versus 39.7%, log-rank=3.652, p=0.056). Following GTR, early adjuvant radiotherapy was administered to 28.3% of patients and did not influence OS (5year OS 77.0% versus 75.7%, log-rank=0.075, p=0.784) or PFS (5year PFS 82.0% versus 79.3%, log-rank=0.059, p=0.808). Although extent of resection emerged as an important prognostic variable, early adjuvant radiotherapy did not influence outcome following GTR of atypical meningiomas. Prospective randomized controlled trials are planned. PMID:26775147

  19. Off-label indications for atypical antipsychotics: A systematic review

    OpenAIRE

    Fountoulakis, Konstantinos N; Nimatoudis, Ioannis; Iacovides, Apostolos; Kaprinis, George

    2004-01-01

    Introduction With the introduction of newer atypical antipsychotic agents, a question emerged, concerning their use as complementary pharmacotherapy or even as monotherapy in mental disorders other than psychosis. Material and method MEDLINE was searched with the combination of each one of the key words: risperidone, olanzapine and quetiapine with key words that refered to every DSM-IV diagnosis other than schizophrenia and other psychotic disorders, bipolar disorder and dementia and memory d...

  20. YKL-40 expression in soft-tissue sarcomas and atypical lipomatous tumors

    DEFF Research Database (Denmark)

    Harving, Mette L; Christensen, Lise H; Ringsholt, Merete;

    2014-01-01

    BACKGROUND AND PURPOSE: YKL-40 is a glycoprotein that is expressed in many types of cancer cells. In some cancers, there is a correlation between high serum YKL-40 levels on the one hand and more aggressive disease and early death on the other. YKL-40 has never been studied in patients with soft-tissue...... grade 3) than in low-malignancy tumors (grade 1). INTERPRETATION: YKL-40 is expressed in soft-tissue sarcomas. There is a correlation between expression of YKL-40 in STS and both histological grade of the malignancy and survival. Whether or not YKL-40 expression is an independent prognostic variable...... sarcomas (STSs). We investigated whether YKL-40 is expressed in STS tissue and ascertained that the degree of expression is related to survival and/or the histological grade of the malignancy (FNCLCC). PATIENTS AND METHODS: We included archived tissue from 49 patients (40 with STS and 9 with atypical...